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Rethinking lysosomes and lysosomal disease

Neuroscience letters, 2021-09, Vol.762, p.136155-136155, Article 136155

Walkley, Steven U.

2021

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Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

PloS one, 2009-09, Vol.4 (9), p.e6951

2009

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Autophagy in lysosomal storage disorders

Autophagy, 2012-05, Vol.8 (5), p.719-730

2012

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Current concepts in the neuropathogenesis of mucolipidosis type IV

Journal of neurochemistry, 2019-03, Vol.148 (5), p.669-689

2019

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Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

The Lancet (British edition), 2017-10, Vol.390 (10104), p.1758-1768

2017

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Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

Current topics in medicinal chemistry, 2014-02, Vol.14 (3), p.330-339

2014

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Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

Science translational medicine, 2015-02, Vol.7 (276), p.276ra26

2015

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Secondary lipid accumulation in lysosomal disease

Biochimica et biophysica acta, 2009-04, Vol.1793 (4), p.726-736

2009

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Defective macroautophagic turnover of brain lipids in the TgCRND8 Alzheimer mouse model: prevention by correcting lysosomal proteolytic deficits

Brain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.3300-3318

2014

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Free sialic acid storage disorder: Progress and promise

Neuroscience letters, 2021-06, Vol.755, p.135896-135896, Article 135896

2021

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Niemann-Pick disease, type C and Roscoe Brady

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.34-37

2017

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A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele

The Journal of neuroscience, 2015-05, Vol.35 (21), p.8091-8106

2015

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Consequences of NPC1 and NPC2 loss of function in mammalian neurons

Biochimica et biophysica acta, 2004-10, Vol.1685 (1), p.48-62

2004

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Secondary accumulation of gangliosides in lysosomal storage disorders

Seminars in cell & developmental biology, 2004-08, Vol.15 (4), p.433-444

Walkley, Steven U

2004

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Using team-based precision medicine to advance understanding of rare genetic brain disorders

Journal of neurodevelopmental disorders, 2024-03, Vol.16 (1), p.10-13, Article 10

2024

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Neurologic, Gastric, and Opthalmologic Pathologies in a Murine Model of Mucolipidosis Type IV

American journal of human genetics, 2007-11, Vol.81 (5), p.1070-1083

2007

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Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

Journal of lipid research, 2013-10, Vol.54 (10), p.2800-2814

2013

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Microarray expression analysis and identification of serum biomarkers for Niemann―Pick disease, type C1

Human molecular genetics, 2012-08, Vol.21 (16), p.3632-3646

2012

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X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction

Brain (London, England : 1878), 2011-11, Vol.134 (11), p.3369-3383

2011

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Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood–brain barrier permeability

Journal of inherited metabolic disease, 2013-05, Vol.36 (3), p.491-498

2013

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Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders

Journal of comparative neurology (1911), 2004-12, Vol.480 (4), p.415-426

2004

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N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV

Neurobiology of disease, 2017-09, Vol.105, p.257-270

2017

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Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III)

Human molecular genetics, 2015-04, Vol.24 (7), p.1856-1868

2015

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Lysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal disease

The Journal of neuroscience, 2013-06, Vol.33 (26), p.10815-10827

2013

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Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities

The American journal of pathology, 2017-04, Vol.187 (4), p.864-883

2017

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Rethinking lysosomes and lysosomal disease

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

Autophagy in lysosomal storage disorders

Current concepts in the neuropathogenesis of mucolipidosis type IV

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

Secondary lipid accumulation in lysosomal disease

Defective macroautophagic turnover of brain lipids in the TgCRND8 Alzheimer mouse model: prevention by correcting lysosomal proteolytic deficits

Free sialic acid storage disorder: Progress and promise

Niemann-Pick disease, type C and Roscoe Brady

A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele

Consequences of NPC1 and NPC2 loss of function in mammalian neurons

Secondary accumulation of gangliosides in lysosomal storage disorders

Using team-based precision medicine to advance understanding of rare genetic brain disorders

Neurologic, Gastric, and Opthalmologic Pathologies in a Murine Model of Mucolipidosis Type IV

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

Microarray expression analysis and identification of serum biomarkers for Niemann―Pick disease, type C1

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction

Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood–brain barrier permeability

Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV

Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III)

Lysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal disease

Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities

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