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FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann‐Pick type C mutant fibroblasts

The FASEB journal, 2017-04, Vol.31 (4), p.1719-1730

2017

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A comparative study on fluorescent cholesterol analogs as versatile cellular reporters[S]

Journal of lipid research, 2016-02, Vol.57 (2), p.299-309

2016

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Immune dysfunction in Niemann‐Pick disease type C

Journal of neurochemistry, 2016-01, Vol.136 (S1), p.74-80

2016

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Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease

Journal of inherited metabolic disease, 2020-05, Vol.43 (3), p.574-585

2020

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Ragulator-a multifaceted regulator of lysosomal signaling and trafficking

The Journal of cell biology, 2017-12, Vol.216 (12), p.3895-3898

2017

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Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease

Experimental neurology, 2015-01, Vol.263, p.102-112

2015

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Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

Wellcome open research, 2022-01, Vol.7, p.267-267

2022

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STAT3 associates with vacuolar H + -ATPase and regulates cytosolic and lysosomal pH

Cell research, 2018-10, Vol.28 (10), p.996-1012

2018

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Defective platelet function in Niemann‐Pick disease type C1

JIMD reports, 2020-11, Vol.56 (1), p.46-57

2020

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AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease

Human molecular genetics, 2018-09, Vol.27 (17), p.3079-3098

2018

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Drug‐induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann–Pick type C cells and mice

EMBO reports, 2019-07, Vol.20 (7), p.e47055-n/a

2019

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Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice

EMBO reports, 2019-07, Vol.20 (7), p.e47055

2019

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Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease

Annual review of genomics and human genetics, 2014-01, Vol.15 (1), p.173-194

2014

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Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

Wellcome open research, 2022, Vol.7, p.267

2022

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Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C

Life science alliance, 2020-07, Vol.3 (7), p.e201800253

2020

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Niemann-Pick Type C disease : pathogenesis and therapy

Colaço, Alexandria Nicole

2016

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Development, application and evaluation of a computational tool for management high voltage break disconnector based on self-organizing maps and image processing

Energy conversion and management, 2010-11, Vol.51 (11), p.2279-2284

2010

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Cholesterol - Metabolism
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Brain Diseases
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FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann‐Pick type C mutant fibroblasts

A comparative study on fluorescent cholesterol analogs as versatile cellular reporters[S]

Immune dysfunction in Niemann‐Pick disease type C

Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease

Ragulator-a multifaceted regulator of lysosomal signaling and trafficking

Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

STAT3 associates with vacuolar H + -ATPase and regulates cytosolic and lysosomal pH

Defective platelet function in Niemann‐Pick disease type C1

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease

Drug‐induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann–Pick type C cells and mice

Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice

Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C

Niemann-Pick Type C disease : pathogenesis and therapy

Development, application and evaluation of a computational tool for management high voltage break disconnector based on self-organizing maps and image processing

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