BDSRA Funds Research in 2011
Each year BDSRA issues a Request For Proposals (RFP), which can be viewed on this website. Proposals are received and peer reviewed, ranked and then presented to the BDSRA Board of Directors for final approval. When approved, BDSRA funds to the extent of monies available at the time, and research grants are awarded at the BDSRA Annual Conference. The 2011 awards are listed below. BDSRA also thanks the family foundations that joined us again this year to help keep research moving forward.
Peter Lobel, PhD, Rutgers University
Enzyme replacement therapy for Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)
$50,000 – Funded by Noah’s Hope Foundation
Beverly L. Davidson, PhD, University of Iowa
Determining the feasibility of gene transfer to ventricular lining cells of primate brain for widespread distribution of TPP1 activity by CSF (LINCL)
$102,391 – Funded by Blake’s Purpose Foundation
$40,956.40 – Funded by BDSRA
Sandra Hofmann, MD, PhD, University of Texas Southwestern Medical Center
Analytical methods to guide treatment for CLN1/Batten disease (INCL)
$100,676 – 25% Funded by Taylor’s Tale Foundation
Bruno Gasnier, PhD, Université Paris Descartes
Metabolic compartmentalization abnormalities in Neuronal Ceroid Lipofuscinosis (CLN3, CLN7)
$37,000
Martin L. Katz, PhD, University of Missouri School of Medicine
Search for Canine Models of Infantile and Juvenile NCL (INCL, JNCL)
$53,881 (2-Year Research Project)
Jonathan Cooper, PhD, King’s College London
Production and in-vitro testing of gene therapy vectors for targeting different tissues in INCL
$6,800
David E. Sleat, PhD, Rutgers University
Development of a transgenic mouse that is immunotolerant towards recombinant human TPP1 (LINCL)
$25,000 – Funded by Hope for Bridgette Foundation
David N. Palmer, PhD, Lincoln University, Lincoln, NZ
Viral-vector gene therapy in CLN5 and CLN6 NCL affected sheep
$64,000 (US)/[$80,000 (NZ)] (1-Year Postdoctoral Fellowship)
John Staropoli, MD, PhD, Massachusetts General Hospital, Harvard Medical School
Development of a clinical registry and biorepository for NCL disorders (All Forms)
$30,000 (2nd Year Postdoctoral Fellowship)
Susan Cotman, PhD, Massachusetts General Hospital, Harvard Medical School
Generation of human NCL iPS cells for the study of NCL disease biology (CLN3, CLN6)
$40,000
Yu Meng, PhD, and Peter Lobel, PhD, CABM
Evaluation of peripheral enzyme replacement therapy for LINCL and development of inductible transgeneic mouse TPP1 model (CLN2)
$40,000 (2nd Year Postdoctoral Fellowship)
Shannon Macauley-Rambach, PhD, Washington University School of Medicine, St. Louis
Activated astrocytes as therapeutic targets in INCL
$30,000 (3rd Year Postdoctoral Fellowship)
Beverly L. Davidson, PhD, and James Geoghegan, PhD, University of Iowa
The Molecular basis for AAV-targeting of TPP1 deficient brains (LINCL)
$26,800 (2nd Year – Funded by Our Promise to Nicholas Foundation)
Jonathan Cooper, PhD, King’s College London
Emergency funding to maintain PPT1 mouse colony (INCL)
$25,000.00 – $5,000 provided by Taylor’s Tale Foundation
Total Funded: $672,504.40
Portfolio of BDSRA Research Acknowledgements
BDSRA has been acknowledged many times over the years for having funded research that has been published in journals, books, etc. Below is a list of those publications/articles/abstracts in date order, beginning with most recent. For the full text of a publication/article/abstract, go to http://www.ncbi.nlm.nih.gov/pubmed/ or contact BDSRA.
Chinmoy Sarkara, Zhongjian Zhanga, Anil B. Mukherjee, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health
Molecular Genetics and Metabolism Volume 104, Issue 3, November 2011, Pages 338-345
Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients
J.W. Mink, MD, PhD, et. al., University of Rochester
Journal of Inherited Metabolic Diseases 2011 Oct;34(5):1075-81
Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data
J.W. Mink, MD, PhD, et. al., University of Rochester
Neurology – November 15, 2011 vol. 77 no. 20 1801-1807
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Lobel P., PhD., SourceCenter for Advanced Biotechnology and Medicine
Molecular Therapy – 2011 Oct;19(10):1842-8
Large-volume intrathecal enzyme delivery increases survival of a mouse model of late infantile neuronal ceroid lipofuscinosis.
Mole, Sara, PhD, University College London, et. al.
American Journal of Human Genetics – 2011 May 13;88(5):566-73
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Mole, Sara, PhD, University College London, et. al.
American Journal of Human Genetics, Volume 89, Issue 2, 241-252, 04 August 2011
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
Martin L. Katz, PhD, University of Missouri – Columbia
Neurobiology of Disease, Volume 42, Issue 3, June 2011, Pages 468-474
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
Martin L. Katz, PhD, University of Missouri – Columbia
Journal of Biomedicine and Biotechnology, Volume 2011
A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis
IN PRESS 2011
Susan Cotman, PhD, Massachusetts General Hospital, Harvard Medical School, Harvard University
Induced Pluripotent Stem Cell Lines from Juvenile Neuronal Ceroid Lipofuscinosis Patients
Jonathan D. Cooper, PhD, Institute of Psychiatry, King’s College London, London, UK
Human Molecular Genetics 2011, Vol. 20, No. 7 1375–1386
Spatial and Temporal Correlation between Neuron Loss and Neuroinflammation in a Mouse Model of Neuronopathic Gaucher Disease
Susan Cotman, PhD, Massachusetts General Hospital, Boston, Massachusetts
Public Library of Science One, Feb 17;6(2):e17118
Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells
Beverly L. Davidson, PhD, Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, IA
Neurobiology of Disease, 2011 Feb;41(2):237-48. Epub 2010 Sep 25.
A Knock-in Reporter Mouse Model for Batten Disease Reveals Predominant Expression of CLN3 in Visual, Limbic and Subcortical Motor Structures
Anil B. Mukherjee, MD, PhD, NICHD, NIH
Human Molecular Genetics, 2011 Mar 15;20(6):1111-21.
Disruption of Adaptive Energy Metabolism and Elevated Ribosomal p-S6K1 Levels Contribute to INCL Pathogenesis: Partial Rescue by Resveratrol
David A. Pearce, PhD, Sanford Children’s Health Research Center, University of South Dakota
Cellular and Molecular Life Sciences, 2011 Feb;68(3):453-74
Interactions of the Proteins of Neuronal Ceroid Lipofuscinosis: Clues to Function.
David A. Pearce, PhD, Sanford Children’s Health Research Center, University of South Dakota
Journal of Neuroimmunology, 2011 Jan;230(1-2):169-72.
Immunosuppression Alters Disease Severity in Juvenile Batten Disease Mice
Mark S. Sands, PhD, Department of Internal Medicine, Washington University St. Louis
Human Molecular Genetics, 2011 doi: 10.1093/hmg/ddr112
Combination Therapies for Lysosomal Storage Disease: Is the Whole Greater than the Sum of Its Parts?
Heather R. Adams, PhD, University of Rochester School of Medicine & Dentistry, Rochester, NY
Developmental Medicine & Child Neurology 2010, 52: 637–643
Genotype Does Not Predict Severity of Behavioural Phenotype in Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)
Lynn Breau, PhD, School of Nursing and Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada
Journal of Pain Management 2010 Volume 3, Issue 3. pp. 293-300
The Pain Behaviour of Children with Neuronal Ceroid Lipofuscinosis: Variation Due to Child Factors and Pain History
Lynn Breau, PhD, School of Nursing and Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada
Journal of Pain Management 2010 Volume 3, Issue 3. pp. 283-292
Development and Initial Validation of the Batten’s Observational Pain Scale: A Preliminary Study
Jonathan Cooper, PhD, Institute of Psychiatry, King’s College London
Biochemical Society Transactions 2010 Dec;38(6):1448-52.
The Neuronal Ceroid Lipofuscinoses: The Same, but Different?
Jonathan Cooper, PhD, Institute of Psychiatry, King’s College London
Journal of Neuropathology and Experimental Neurology, 2010 Dec;69(12):1228-46.
Distinct Neuropathologic Phenotypes after Disrupting the Chloride Transport Proteins ClC-6 or ClC-7/Ostm1
Beverly Davidson, PhD, Department of Internal Medicine, University of Iowa, Iowa City, IA
American Journal of Physiology, Cell Physiology, 2010 Jun;298(6):C1388-400. Epub 2010 Mar 10.
Osmoregulation of Ceroid Neuronal Lipofuscinosis Type 3 in the Renal Medulla
Sandra Hofmann, MD, PhD, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX
Molecular Genetics and Metabolism, 2010 Apr;99(4):374-8. Epub 2009 Dec 5.
Human Recombinant Palmitoyl-Protein Thioesterase-1 (PPT1) for Preclinical Evaluation of Enzyme Replacement Therapy for Infantile Neuronal Ceroid Lipofuscinosis
Sandra Hofmann, MD, PhD, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX
The Journal of Biological Chemistry, 2010 Apr 23;285(17):13022-31.
DHHC5 Interacts with PDZ Domain 3 of Post-Synaptic Density-95 (PSD-95) Protein and Plays a Role in Learning and Memory
Martin Katz, PhD, Mason Eye Institute, University of Missouri School of Medicine, Columbia, MO, USA Molecular and Genetics Metabolism, 2010 Aug;100(4):349-56. Epub 2010 Apr 24.
A Mutation in Canine PPT1 Causes Early Onset Neuronal Ceroid Lipofuscinosis in a Dachshund
David A. Pearce, PhD, University of Rochester School of Medicine and Dentistry, Rochester, NY
Human Molecular Genetics, 2010 Mar 1;19(5):931-42
Interaction between Sdo1p and Btn1p in the Saccharomyces Cerevisiae Model for Batten Disease
Katherine Sims, MD, Neurogenetics DNA Diagnostic Laboratory, Department of Neurology, and Center for Human Genetic Research, Massachusetts General Hospital
Neurology, 2010 Feb 16;74(7):565-71.
CLN5 Mutations are Frequent in Juvenile and Late-Onset Non-Finnish Patients with NCL
Jonathan Cooper, PhD, MRC Centre for Neurodegeneration Research, Institute of Psychiatry, King’s College London, UK
Neurobiology of Disease, 2009 May; 34(2): 308–319.
Progressive Thalamocortical Neuron Loss in CLN5 Deficient Mice: Distinct Effects in Finnish Variant Late Infantile NCL
Beverly L. Davidson, PhD, Department of Internal Medicine, Iowa City, Iowa
Nature Medicine, 15, 1215 – 1218 (2009)
Molecular Signatures of Disease Brain Endothelia Provide New Sites for CNS-Directed Enzyme Therapy
Thomas Gillingwater, PhD, University of Edinboro, Edinboro, Scotland
Journal of Neuroscience Research, 2009 Jul;87(9):2157-66.
Protein Product of CLN6 Gene Responsible for Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis Interacts with CRMP-2
Thomas Gillingwater, PhD, University of Edinboro, Edinboro, Scotland
Human Molecular Genetics, 2009 Nov 1;18(21):4066-80
Molecular Correlates of Axonal and Synaptic Pathology in Mouse Models of Batten Disease
Ines Noher de Halac, PhD, Centre for the Study of Inherited Metabolic Diseases (CEMECO), Children’s Hospital, School of Medicine, National University Cordoba, Cordoba, Argentina
Clinical Genetics, 2009 Oct;76(4):372-82.
An Integrated Strategy for the Diagnosis of Neuronal Ceroid Lipofuscinosis Types 1 (CLN1) and 2 (CLN2) in Eleven Latin American Patients
Peter Lobel, PhD, Center for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School, Piscataway, NJ
Neuroscience Letters, 2009 Mar 27;453(1):27-30
Genetic Modulation of Apoptotic Pathways Fails to Alter Disease Course in Tripeptidyl-Peptidase 1 Deficient Mice
Peter Lobel, PhD, Center for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School, Piscataway, NJ
Molecular & Cellular Proteomics, 2009 Jul;8(7):1708-18
Mass Spectrometry-Based Protein Profiling to Determine the Cause of Lysosomal Storage Diseases of Unknown Etiology
Sara E. Mole, PhD, Institute of Child Health, and Department of Genetics, Evolution and Environment, University College London
HUMAN MUTATION, Mutation in Brief (2009) Online
Mutations in MFSD8/CLN7 Are a Frequent Cause of Variant-Late Infantile Neuronal Ceroid Lipofuscinosis
Sara E. Mole, PhD, MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health
Biochemical and Biophysical Research Communications 379 (2009) 892–897
Variant Late Infantile Ceroid Lipofuscinoses Associated with Novel Mutations in CLN6
Anil B. Mukherjee, MD, PhD, Department of Pediatrics, Walter Reed Army Medical Center, Washington, DC, USA
Archives of Neurology, 2009 66(12):1567-1571
Subdural Fluid Collections in Patients with infantile Neuronal Ceroid Lipofuscinosis
David A. Pearce, PhD, University of Rochester School of Medicine and Dentistry, Rochester, NY
Brain Research, 2009 Apr 17;1266:93-107
Cerebellar Defects in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis
Mark S. Sands, PhD, Department of Genetics, Washington University School of Medicine
Experimental Neurology, 217 (2009) 124–135
Cerebellar Pathology and Motor Deficits in the Palmitoyl Protein Thioesterase 1-Deficient Mouse
Mark S. Sands, PhD, Department of Genetics, Washington University School of Medicine
Experimental Neurology, 2009 Jul;218(1):5-8
Promising CNS-Directed Enzyme Replacement Therapy for Lysosomal Storage Diseases
Gail M. Seigel, PhD, Department of Ophthalmology, University of Rochester School of Medicine
Ophthalmic Genetics 30(4), 190–198, 2009
Autofluorescence and Infrared Retinal Imaging in Patients and Obligate Carriers with Neuronal Ceroid Lipofuscinosis
David Palmer, PhD, Agriculture and Life Sciences Division, Lincoln University, Lincoln 7647, New Zealand
Neurobiology of Disease, 2008 Oct;32(1):50-65
Location and Connectivity Determine GABAergic Interneuron Survival in the Brains of South Hampshire Sheep with CLN6 Neuronal Ceroid Lipofuscinosis
Susan Cotman, PhD, Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA
The Journal of Neuroscience, September 3, 2008 • 28(36):8993–9001
Lysosomal Activity Associated with Developmental Axon Pruning
Beverly L. Davidson, PhD, Department of Molecular Physiology and Biophysics, University of Iowa, Iowa City, IA
Molecular Therapy: The Journal of the American Society of Gene Therapy, 2008 Apr;16(4):649-56. Epub 2008 Feb 12.
Intraventricular Enzyme Replacement Improves Disease Phenotypes in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis
Jonathan Cooper, PhD, Institute of Psychiatry, King’s College London, London, UK
Journal of Neuropathology & Experimental Neurology, 2008 Jan;67(1):16-29.
Synaptic Changes in the Thalamocortical System of Cathepsin D-Deficient Mice: A Model of Human Congenital Neuronal Ceroid Lipofuscinosis
Peter Lobel, PhD, Center for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School, Piscataway, NJ
The Biochemical Journal, 2008 Oct 15;415(2):225-32.
Dipeptidyl Peptidase I Does Not Functionally Compensate for the Loss of Tripeptidyl-Peptidase I in the Neurodegenerative Disease Late-Infantile Neuronal Ceroid Lipofuscinosis
Mark S. Sands, PhD, Department of Internal Medicine, Washington University School of Medicine
Pediatric and Developmental Pathology 11, 185–192, 2008
DOI: 10.2350/07-03-0242.1 ª 2008 Society for Pediatric Pathology
A Murine Model of Infantile Neuronal Ceroid Lipofuscinosis-Ultrastructural Evaluation of Storage in the Central Nervous System and Viscera
Heather R. Adams, , PhD, University of Rochester School of Medicine & Dentistry, Rochester, NY
Journal of Child Neurology, May 2007, Vol. 22, No. 5, 621-627
Neuropsychological Symptoms of Juvenile-Onset Batten Disease: Experiences from 2 Studies
Beverly L. Davidson, PhD, Departments of Internal Medicine, Neurology, and Physiology and Biophysics, University of Iowa, Iowa City, IA
The Journal of Neuroscience, 12 September 2007, 27(37): 9826-9834
A Knock-In Reporter Model of Batten Disease
Peter Lobel, PhD, Genzyme Corporation, Framingham, MA
Molecular Therapy; The Journal of the American Society of Gene Therapy, 2007 Oct;15(10):1782-8. Epub 2007 Jul 17
Timing of Therapeutic Intervention Determines Functional and Survival Outcomes in a Mouse Model of Late Infantile Batten Disease
Jeffrey Gerst, PhD, Department of Molecular Genetics, Weizmann Institute of Science, Rehovot 76100, Israel
Molecular and Cell Biology, 2007 Jan;27(2):605-21
Btn2, a Hook1 Ortholog and Batten Disease Related Protein, Mediates Sorting to and from late Endosomes in Yeast
Jonathan Cooper, PhD, Institute of Psychiatry, King’s College London, London, UK
Neurobiology of Disease, 2007 Feb;25(2):239-51
IgG Entry and Deposition Are Components of the Neuroimmune Response in Batten Disease
David A. Pearce, PhD, University of Rochester School of Medicine and Dentistry, Rochester, NY
Lysosomal Storage Disorders, 2007, 371-388, DOI: 10.1007/978-0-387-70909-3_23
The Neuronal Ceroid Lipofuscinoses: Clinical Features and Molecular Basis of Disease
David A. Pearce, PhD, University of Rochester School of Medicine and Dentistry, Rochester, NY
Brain Research, 2007 Aug 8;1162:98-112
Alterations in Striatal Dopamine Catabolism Precede Loss of Substantia Nigra Neurons in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis
Weimer JM, Benedict JW, Elshatory YM, Short DW, Ramirez-Montealegre D, Ryan DA, Alexander NA, Federoff HJ, Cooper JD, Pearce DA. – Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY
Jonathan Cooper, PhD, Department of Neuroscience, King’s College London, London, UK
Neurobiology of Disease, 25 (2007) 150–162
Successive Neuron Loss in the Thalamus and Cortex in a Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis
Jonathan Cooper, PhD, Institute of Psychiatry, King’s College London, London, UK
Brain Pathology, Volume 16, Issue 2, pages 110–116, April 2006
Activation of Non-Neuronal Cells within the Prenatal Developing Brain of Sheep with Neuronal Ceroid Lipofuscinosis
Jonathan Cooper, PhD, Pediatric Storage Disorders Laboratory, King’s College London, London, UK
Microscopy and Analysis, Volume 20, Issue 5 (September 2006)
Laser Microdissection for Research into the Molecular Neuropathology of Batten Disease
Jonathan Cooper, PhD, Institute of Psychiatry, King’s College London, London, UK
Neuropathology and Applied Neurobiology, 2006 Oct;32(5):469-82
Distinct Patterns of Serum Immunoreactivity as Evidence for Multiple Brain-Directed Autoantibodies in Juvenile Neuronal Ceroid Lipofuscinosis
Susan Cotman, PhD, Molecular Neurogenetics Unit and Center for Human Genetic Research, Massachusetts General Hospital
The Journal of Biological Chemistry, 2006 Jul 21;281(29):20483-93. Epub 2006 May 19.
Autophagy is Disrupted in a Knock-in Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis
R.G. Crystal, PhD, Neuroscience, Genzyme Corporation, Framingham, MA
Journal of Neuroscience, 2006 Feb 1;26(5):1334-42.
Intracranial Delivery of CLN2 Reduces Brain Pathology in a Mouse Model of classical Late Infantile Neuronal Ceroid Lipofuscinosis
Peter Lobel, PhD, Center for Advanced Biotechnology and Medicine, Rutgers, the State University of New Jersey
The Journal Biological Chemistry, 2006 Mar 10;281(10):6559-72
Determination of the Substrate Specificity of Tripeptidyl-Peptidase I Using Combinatorial Peptide Libraries and Development of Improved Fluorogenic Substrates
Marcy E. MacDonald, PhD, Molecular Neurogenetics Unit, Massachusetts General Hospital
Genetics, 2006 April; 172(4): 2379–2390.
Palmitoyl-Protein Thioesterase 1 Deficiency in Drosophila Melanogaster Causes Accumulation of Abnormal Storage Material and Reduced Life Span
Hannah M. Mitchison, PhD, Pediatric Storage Disorders Laboratory, , King’s College London, London, UK
Biochimica et Biophysica Acta, 2006 Oct;1762(10):873-89.
Progress towards Understanding Disease Mechanisms in Small Vertebrate Models of Neuronal Ceroid Lipofuscinosis
Anil B. Mukherjee, MD, PhD , National Institute of Child Health & Human Development/NIH, Bethesda, MD
Human Molecular Genetics, 2006 Jun 1;15(11):1826-34.
Endoplasmic Reticulum Stress-Induced Caspase-4 Activation Mediates Apoptosis and Neurodegeneration in INCL
David A. Pearce, PhD, Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY
Neurobiology of Disease, 2006 May;22(2):284-93.
Visual Deficits in a Mouse Model of Batten Disease are the Result of Optic Nerve Degeneration and Loss of Dorsal Lateral Geniculate Thalamic Neurons
David A. Pearce, PhD, Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY
Journal of Neuroscience Methods, 2006 Oct 15;157(1):124-31
Homogeneous PCR Nucleobase Quenching Assays to Detect Four Mutations that Cause Neuronal Ceroid Lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2
Mark S. Sands, PhD, Department of Genetics, Washington University School of Medicine, St. Louis, MO
Molecular Therapy (2006) 13, 538–547
CNS-Directed AAV2-Mediated Gene Therapy Ameliorates Functional Deficits in a Murine Model of Infantile Neuronal Ceroid Lipofuscinosis
Tomoko Iwata, PhD, Division of Cancer Sciences and Molecular Pathology, Faculty of Medicine, University of Glasgow, Scotland
Developmental Biology, 2005 Mar 1;279(1):73-85.
FGFR3 Regulates Brain Size by Controlling Progenitor Cell Proliferation and Apoptosis during Embryonic Development
Ines Noher de Halac, PhD, CEMECO, Hospital de Niños de la Provincia de Córdoba, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba), Argentina
Clinical Biochemistry, 2005 May;38(5):492-4.
Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are Expressed in the Human Saliva. A Reliable and Non-Invasive Source for the Diagnosis of Infantile (CLN1) and Late Infantile (CLN2) Neuronal Ceroid Lipofuscinoses
Marcy E. MacDonald, PhD, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA
Neurobiology of Disease, Volume 20, Issue 3, December 2005, Pages 823-836
Thalamocortical Neuron Loss and Localized Astrocytosis in the CLN3Δex7/8 Knock-In Mouse Model of Batten Disease
David A. Pearce, PhD, University of Rochester School of Medicine and Dentistry, Rochester, NY
Neurology, 2005 Jul 26;65(2):275-9.
A Clinical Rating Scale for Batten Disease: Reliable and Relevant for Clinical Trials
Mark S. Sands, PhD, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO
Molecular Therapy; The Journal of the American Society of Gene Therapy, 2005 Sep;12(3):413-21
AAV2-Mediated Ocular Gene Therapy for Infantile Neuronal Ceroid Lipofuscinosis
Jonathan Cooper, PhD, Department of Paediatrics and Child Health, Royal Free and University College Medical School, London
Brain Pathology, 2004 Jan;14(1):86-96
Selectivity and Types of Cell Death in the Neuronal Ceroid Lipofuscinoses
Jonathan Cooper, PhD, Pediatric Storage Disorders Laboratory, and Department of Neuroscience, Institute of Psychiatry, King’s College London
Neurobiology of Disease, 2004 Jul;16(2):346-59
Regional and Cellular Neuropathology in the Palmitoyl Protein Thioesterase-1 Null Mutant Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis
Jonathan Cooper, PhD, Pediatric Storage Disorders Laboratory, MRC Social Genetic and Developmental Psychiatry Centre, King’s College London
Brain Research, 2004 Oct 15;1023(2):231-42
Late Onset Neurodegeneration in the CLN3-/- Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis Is Preceded by Low Level Glial Activation
Susan Cotman, PhD, Molecular Neurogenetics Unit of Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA
BMC Neuroscience, 2004, 5:57doi:10.1186/1471-2202-5-57
Membrane Trafficking and Mitochondrial Abnormalities Precede Subunit C Deposition in a Cerebellar Cell Model of Juvenile Neuronal Ceroid Lipofuscinosis
David A. Pearce, PhD, Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY
Neurology, 2004 Dec 14;63(11):2001-5
Glutamic Acid Decarboxylase Autoimmunity in Batten Disease and Other Disorders
Mark S. Sands, PhD, Department of Internal Medicine, Washington University School of Medicine
Neurobiology of Disease, 16 (2004) 360–369
Adeno-Associated Virus 2-Mediated Gene Therapy Decreases Autofluorescent Storage Material and Increases Brain Mass in a Murine Model of Infantile Neuronal Ceroid Lipofuscinosis
Rose-Mary Boustany, MD, Department of Pediatrics, Duke University Medical Center, Durham, NC
Human Mutation, 2003 May;21(5):502-8
Novel Mutations in the CLN6 Gene Causing a Variant Late Infantile Neuronal Ceroid Lipofuscinosis
Jonathan Cooper, PhD, Pediatric Storage Disorders Laboratory, Department of Neuropathology P040, Institute of Psychiatry, King’s College London, UK
Current Opinion in Neurology, 2003 Apr;16(2):121-8
Progress towards Understanding the Neurobiology of Batten Disease or Neuronal Ceroid Lipofuscinosis
Beverly L. Davidson, PhD, Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, IA
Gene Therapy, 2003 Jan;10(1):34-42
Viral-Mediated Delivery of the Late-Infantile Neuronal Ceroid Lipofuscinosis Gene, TPP-I to the Mouse Central Nervous System
Beverly L. Davidson, PhD, Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, IA
FEBS Letters, 2003 Apr 24;541(1-3):40-6
Membrane Topology of CLN3, the Protein Underlying Batten Disease
Beverly L. Davidson, PhD, Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, IA
FEBS Letters, 2003 Dec 4;555(2):351-7
Intracellular Trafficking of CLN3, the Protein Underlying the Childhood Neurodegenerative Disease, Batten Disease
Marcy E. MacDonald, PhD, Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA
BMC Neuroscience, 2003 Nov 20;4:30
An Over-Expression System for Characterizing PPT1 Function in Drosophila
Sandra Hofmann, MD, PhD, University of Texas Southwestern Medical Center, Dallas, TX
Molecular Psychiatry, 2002;7(5):434-6
Neuronal Ceroid Lipofuscinosis/Batten Disease: The Lysosomal Proteinoses
Sandra Hofmann, MD, PhD, University of Texas Southwestern Medical Center, Dallas, TX
Current Molecular Medicine, Volume 2, Number 5, August 2002, pp. 423-437(15)
Neuronal Ceroid Lipofuscinoses Caused by Defects in Soluble Lysosomal Enzymes (CLN1 and CLN2)
Marcy E. MacDonald, PhD, Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA
American Journal of Human Genetics, 2002 Feb;70(2):324-35. Epub 2001 Dec 21
Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse
Marcy E. MacDonald, PhD, Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA
Human Molecular Genetics, 2002, Vol. 11, No. 22, pp. 2709-2721
CLN3ΔEX7/8 Knock-In Mice with the Common JNCL Mutation Exhibit Progressive Neurologic Disease that Begins Before Birth
David A. Pearce, PhD, University of Rochester School of Medicine and Dentistry, Rochester, NY
Human Molecular Genetics, 2002, Vol. 11, No. 12 1421–1431
An Autoantibody Inhibitory to Glutamic Acid Decarboxylase in the Neurodegenerative Disorder Batten Disease
Leena Peltonen, MD, PhD, Department of Molecular Medicine, National Public Health Institute and Department of Medical Genetics, University of Helsinki, Finland
Human Molecular Genetics, 2002, Apr 15;11(8):885-91
Lysosomal Localization of the Neuronal Ceroid Lipofuscinosis CLN5 Protein
Gail M. Seigel, PhD, Department of Ophthalmology, University of Rochester School of Medicine
Molecular and Cellular Neuroscience, 19, 515–527 (2002)
Retinal Pathology and Function in a CLN3 Knockout Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)
Sandra Hofmann, MD, PhD, University of Texas Southwestern Medical Center, Dallas, TX
Oxford Journals Life Sciences & Medicine Human Molecular Genetics, Oct 2001, Vol. 10, Issue13 pp. 1431-1439
Biochemical Analysis of Mutations in Palmitoyl-Protein Thioesterase Causing Infantile and Late-Onset Forms of Neuronal Ceroid Lipofuscinosis
Sandra Hofmann, MD, PhD, University of Texas Southwestern Medical Center, Dallas, TX
Proceedings of the National Academy of Sciences of the United States of America, Nov 20, 2001, Vol. 98, No. 24, 13566-13571
Disruption of PPT1 or PPT2 Causes Neuronal Ceroid Lipofuscinosis in Knockout Mice
Sara E. Mole, PhD, Department of Paediatrics and Child Health, University College London, Rayne Institute, London, UK
European Journal of Paediatric Neurology, 2001;5 Suppl A:7-10
New Mutations in the Neuronal Ceroid Lipofuscinosis Genes
Beverly L. Davidson, PhD, Department of Internal Medicine, University of Iowa, Iowa City, IA
Human Molecular Genetics, 2000 Mar 22;9(5):735-44
Batten Disease: Evaluation of CLN3 Mutations on Protein Localization and Function
Krystyna Wisniewski, PhD, MD, Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY
Genetics in Medicine, 2000 Nov-Dec;2(6):312-8
Heterogeneity of Late-Infantile Neuronal Ceroid Lipofuscinosis
Jonathan Cooper, PhD, Department of Neurology and Neurological Sciences and the Program in Neuroscience, Stanford University, Stanford, CA
The Journal of Neuroscience, 1999 Apr 1;19(7):2556-67
Apparent Loss and Hypertrophy of Interneurons in a Mouse Model of Neuronal Ceroid Lipofuscinosis: Evidence for Partial Response to Insulin-Like Growth Factor-1 Treatment
Beverly L. Davidson, PhD, Department of Internal Medicine, University of Iowa, Iowa City, IA
Molecular Genetics and Metabolism, Vol. 66, Issue 4, April 1999, Pages 253-260
Intracellular Trafficking of the JNCL Protein CLN3
Martin L. Katz, PhD, University of Missouri School of Medicine
Neurochemical Research, Vol. 23, No. 7, 983-989, 1999
Altered Mitochondrial Function in Canine Ceroid-Lipofuscinosis
Peter Lobel, PhD, Center for Advanced Biotechnology and Medicine, Piscataway, NJ
Journal of Neurochemistry, 1999 Aug;73(2):700-11
Biochemical Characterization of a Lysosomal Protease Deficient in Classical Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) and Development of an Enzyme-Based Assay for Diagnosis and Exclusion of LINCL in Human Specimens and Animal Models
Hannah M. Mitchison, PhD, Department of Paediatrics, Royal Free and University College London Medical School, Rayne Institute, London, UK
Neurobiology of Disease, 6, 321–334 (1999)
Targeted Disruption of the CLN3 Gene Provides a Mouse Model for Batten Disease
Krystyna Wisniewski, PhD, MD, State University of New York/Health Science Center at Brooklyn, Brooklyn, NY
Molecular Genetics and Metabolism, Vol. 66, Issue 4, April 1999, Pages 234-239
Genotype–Phenotype Correlations in Neuronal Ceroid Lipofuscinosis Due to Palmitoyl-Protein Thioesterase Deficiency
Sandra Hofmann, MD, PhD, University of Texas Southwestern Medical Center, Dallas, TX
The Journal of Clinical Investigation, 1998 July 15; 102(2): 361–370
Molecular Genetics of Palmitoyl-Protein Thioesterase Deficiency in the U.S.
Patricia B. Munroe, PhD, Department of Pediatrics, University College London Medical School, The Rayne Institute, London, UK
The American Journal of Human Genetics, Vol. 61, Issue 2, 310-316, 1 August 1997
Spectrum of Mutations in the Batten Disease Gene, CLN3
Krystyna Wisniewski, PhD, MD, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY
Folia Neuropatholoica/Association of Polish Neuropathologists, 1997;35(2):73-9.
Atypical Late Infantile and Juvenile Forms of Neuronal Ceroid Lipofuscinosis and Their Diagnostic Difficulties
Terry J. Lerner, PhD, Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA
Genomics, 1996 Aug 1;35(3):617-9.
Isolation and Chromosomal Mapping of a Mouse Homolog of the Batten Disease Gene CLN3
Terry J. Lerner, PhD, Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA
Cell, Vol. 82, Issue 6, 949-957, 22 Sept 1995
Isolation of a Novel Gene Underlying Batten Disease, CLN3
