The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann–Pick disease type C

Lysosome-targeted multifunctional lipid probes reveal the sterol transporter NPC1 as a sphingosine interactor

(2023) Janathan Altuzar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study

(2023) T Fields et al.   Trials

Biomedical Advances in ABCA1 Transporter: From Bench to Bedside

(2023) Hong Y. Choi et al.   Biomedicines

Inhibition of the Niemann-Pick C1 protein is a conserved feature of multiple strains of pathogenic mycobacteria

(2022) Yuzhe Weng et al.   Nature Communications

Better Together: Current Insights Into Phagosome-Lysosome Fusion

(2021) Jenny A. Nguyen et al.   Frontiers in Immunology

Glycosphingolipid metabolism and its role in ageing and Parkinson’s disease

(2021) Kerri-Lee Wallom et al.   GLYCOCONJUGATE JOURNAL

Treatment trials in Niemann-Pick type C disease

(2021) Dominika Sitarska et al.   METABOLIC BRAIN DISEASE

Sphingosine-1-phosphate: From insipid lipid to a key regulator

(2020) Sarah Spiegel   JOURNAL OF BIOLOGICAL CHEMISTRY

Staying in touch with the endocytic network: the importance of contacts for cholesterol transport

(2020) Andrea Martello et al.   TRAFFIC

Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

(2020) Marc C. Patterson et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Last step in the path of LDL cholesterol from lysosome to plasma membrane to ER is governed by phosphatidylserine

(2020) Michael N. Trinh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2020) Alexandria Colaco et al.   Life Science Alliance

Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain

(2020) Vikas Dubey et al.   PLoS Computational Biology

Lysosomal Glycosphingolipid Storage Diseases

(2019) Bernadette Breiden et al.   Annual Review of Biochemistry

NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress

(2019) D. Höglinger et al.   Nature Communications

Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease

(2019) Alexandria Colaco et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2018) Michael P Hughes et al.   HUMAN MOLECULAR GENETICS

RND transporters in the living world

(2018) Hiroshi Nikaido   RESEARCH IN MICROBIOLOGY

Release and uptake mechanisms of vesicular Ca2+ stores

(2018) Junsheng Yang et al.   Protein & Cell

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Emptying the stores: lysosomal diseases and therapeutic strategies

(2017) Frances M. Platt   NATURE REVIEWS DRUG DISCOVERY

Sphingolipids and their metabolism in physiology and disease

(2017) Yusuf A. Hannun et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Neuronal sphingolipidoses: Membrane lipids and sphingolipid activator proteins regulate lysosomal sphingolipid catabolism

(2016) Konrad Sandhoff   BIOCHIMIE

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease

(2016) Elena-Raluca Nicoli et al.   PLoS One

Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses

(2016) Thomas Kirkegaard et al.   Science Translational Medicine

Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease

(2016) Cristin D. Davidson et al.   Annals of Clinical and Translational Neurology

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

(2015) Christopher A. Wassif et al.   GENETICS IN MEDICINE

Cadmium-inducible expression of the ABC-type transporter AtABCC3 increases phytochelatin-mediated cadmium tolerance in Arabidopsis

(2015) Patrizia Brunetti et al.   JOURNAL OF EXPERIMENTAL BOTANY

Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease

(2014) Frances M. Platt et al.   Annual Review of Genomics and Human Genetics

Sphingolipid lysosomal storage disorders

(2014) Frances M. Platt   NATURE

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease

(2014) Annalisa Sechi et al.   Orphanet Journal of Rare Diseases

The complexity of sphingolipid biosynthesis in the endoplasmic reticulum

(2013) Rotem Tidhar et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1

(2013) A. O. Speak et al.   BLOOD

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

(2013) Gaurav V. Harlalka et al.   BRAIN

Vesicular and non-vesicular transport feed distinct glycosylation pathways in the Golgi

(2013) Giovanni D’Angelo et al.   NATURE

Tangier Disease

(2012) Mariarita Puntoni et al.   American Journal of Cardiovascular Drugs

Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann–Pick C mice

(2012) Jennifer B. Nietupski et al.   MOLECULAR GENETICS AND METABOLISM

Molecular mechanisms of endolysosomal Ca2+signalling in health and disease

(2011) Anthony J. Morgan et al.   BIOCHEMICAL JOURNAL

ABCA1-dependent mobilization of lysosomal cholesterol requires functional Niemann–Pick C2 but not Niemann–Pick C1 protein

(2011) Emmanuel Boadu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Lysosomal Ca2+ homeostasis: Role in pathogenesis of lysosomal storage diseases

(2011) Emyr Lloyd-Evans et al.   CELL CALCIUM

Cellular and molecular biology of glycosphingolipid glycosylation

(2011) Hugo J. F. Maccioni et al.   JOURNAL OF NEUROCHEMISTRY

Maladie de Niemann-Pick type C : aspects historiques et actuels, diagnostic biochimique et génétique

(2010) Marie T. Vanier   ARCHIVES DE PEDIATRIE

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Glycosphingolipids-Nature, Function, and Pharmacological Modulation

(2009) Tom Wennekes et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Niemann–Pick C2 (NPC2) and intracellular cholesterol trafficking

(2009) Judith Storch et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Characterization of a Carbon-Carbon Hydrolase from Mycobacterium tuberculosis Involved in Cholesterol Metabolism

(2009) Nathan A. Lack et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Foamy macrophages and the progression of the human tuberculosis granuloma

(2009) David G Russell et al.   NATURE IMMUNOLOGY

Secondary lipid accumulation in lysosomal disease

(2008) Steven U. Walkley et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

(2008) Emyr Lloyd-Evans et al.   NATURE MEDICINE

NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes

(2008) R. E. Infante et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA