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Alterations in ROS activity and lysosomal pH account for distinct patterns of macroautophagy in LINCL and JNCL fibroblasts

PloS one, 2013-02, Vol.8 (2), p.e55526-e55526

2013

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Lysosomal PPT1‐insufficiency is a common pathogenic link between INCL and JNCL

The FASEB journal, 2020-04, Vol.34 (S1), p.1-1

2020

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Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

PloS one, 2012-06, Vol.7 (6), p.e38310-e38310

2012

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Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)

PloS one, 2014-04, Vol.9 (4), p.e95023-e95023

2014

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Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) and the Eye

Survey of ophthalmology, 2009-07, Vol.54 (4), p.463-471

2009

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Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells

PloS one, 2011-02, Vol.6 (2), p.e17118-e17118

2011

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Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth

Human molecular genetics, 2002-10, Vol.11 (22), p.2709-2721

2002

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Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage

Disease models & mechanisms, 2018-09, Vol.11 (9)

2018

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Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments

Journal of neuroscience research, 2006-10, Vol.84 (5), p.1124-1138

2006

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The natural history of juvenile Batten disease (JNCL; CLN3 disease)

Molecular genetics and metabolism, 2013-02, Vol.108 (2), p.S66-S66

2013

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Juvenile neuronal ceroid lipofuscinosis (JNCL) is associated with aberrant glial activation in the central nervous system

Molecular genetics and metabolism, 2013-02, Vol.108 (2), p.S53-S53

2013

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Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates

Contemporary clinical trials, 2013-07, Vol.35 (2), p.48-54

2013

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JNCL patients show marked brain volume alterations on longitudinal MRI in adolescence

Journal of neurology, 2008-08, Vol.255 (8), p.1226-1230

2008

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Defective Intracellular Transport of CLN3 is the Molecular Basis of Batten Disease (JNCL)

Human molecular genetics, 1999-06, Vol.8 (6), p.1091-1098

1999

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41 Preparing for experimental therapeutics in JNCL

Molecular genetics and metabolism, 2007-12, Vol.92 (4), p.21-21

Mink, Jonathan

2007

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A phase II, randomized, controlled trial of Mycophenolate Mofetil in children with juvenile NCL (JNCL)

Molecular genetics and metabolism, 2011-02, Vol.102 (2), p.S30-S30

2011

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Mechanisms of juvenile neuronal ceroid lipofuscinosis (JNCL)

Yíchuán, 2009-08, Vol.31 (8), p.779

2009

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Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates

Molecular genetics and metabolism, 2013-02, Vol.108 (2), p.S32-S32

2013

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Cerebrospinal Fluid Protein Biomarker Discovery in CLN3

Journal of proteome research, 2023-07, Vol.22 (7), p.2493-2508

2023

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A novel mutation of CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy

European journal of medical genetics, 2015-10, Vol.58 (10), p.540-544

2015

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Overview of advances in educational and social supports for young persons with NCL disorders

Biochimica et biophysica acta. Molecular basis of disease, 2020-09, Vol.1866 (9), p.165480-165480, Article 165480

2020

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Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function

The Journal of biological chemistry, 2015-06, Vol.290 (23), p.14361-14380

2015

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Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype

Neuroscience letters, 2005-10, Vol.387 (2), p.111-114

2005

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Treatment of non-epileptic episodes of anxious, fearful behavior in adolescent juvenile neuronal ceroid lipofuscinosis (CLN3 disease)

Frontiers in neurology, 2023-09, Vol.14, p.1216861-1216861

Ostergaard, John R.

2023

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Modulating membrane fluidity corrects Batten disease phenotypes in vitro and in vivo

Neurobiology of disease, 2018-07, Vol.115, p.182-193

2018

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Alterations in ROS activity and lysosomal pH account for distinct patterns of macroautophagy in LINCL and JNCL fibroblasts

Lysosomal PPT1‐insufficiency is a common pathogenic link between INCL and JNCL

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)

Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) and the Eye

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells

Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth

Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments

The natural history of juvenile Batten disease (JNCL; CLN3 disease)

Juvenile neuronal ceroid lipofuscinosis (JNCL) is associated with aberrant glial activation in the central nervous system

Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates

JNCL patients show marked brain volume alterations on longitudinal MRI in adolescence

Defective Intracellular Transport of CLN3 is the Molecular Basis of Batten Disease (JNCL)

41 Preparing for experimental therapeutics in JNCL

A phase II, randomized, controlled trial of Mycophenolate Mofetil in children with juvenile NCL (JNCL)

Mechanisms of juvenile neuronal ceroid lipofuscinosis (JNCL)

Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates

Cerebrospinal Fluid Protein Biomarker Discovery in CLN3

A novel mutation of CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy

Overview of advances in educational and social supports for young persons with NCL disorders

Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function

Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype

Treatment of non-epileptic episodes of anxious, fearful behavior in adolescent juvenile neuronal ceroid lipofuscinosis (CLN3 disease)

Modulating membrane fluidity corrects Batten disease phenotypes in vitro and in vivo

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