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

Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins

(2019) Mikael B.L. Winkler et al.   CELL

NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress

(2019) D. Höglinger et al.   Nature Communications

Mitochondria–lysosome contacts regulate mitochondrial fission via RAB7 GTP hydrolysis

(2018) Yvette C. Wong et al.   NATURE

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

(2017) Daniel S Ory et al.   LANCET

Tubulin acetylation protects long-lived microtubules against mechanical ageing

(2017) Didier Portran et al.   NATURE CELL BIOLOGY

The Plasma Membrane Calcium ATPases and Their Role as Major New Players in Human Disease

(2017) Nicholas Stafford et al.   PHYSIOLOGICAL REVIEWS

Microtubules acquire resistance from mechanical breakage through intralumenal acetylation

(2017) Zhenjie Xu et al.   SCIENCE

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

(2017) Sandra Torres et al.   Frontiers in Physiology

Mitochondrial dysfunction in fibroblasts derived from patients with Niemann-Pick type C disease

(2016) Marcin Woś et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Annexin A1 Tethers Membrane Contact Sites that Mediate ER to Endosome Cholesterol Transport

(2016) Emily R. Eden et al.   DEVELOPMENTAL CELL

Normalization of Hepatic Homeostasis in theNpc1nmf164Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat

(2016) Andrew B. Munkacsi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of Mitochondrial Function Impairs Lysosomes

(2016) Julie Demers-Lamarche et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann–Pick disease

(2016) A Pérez-Cañamás et al.   MOLECULAR PSYCHIATRY

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA

(2015) Alan Diot et al.   PHARMACOLOGICAL RESEARCH

A Dynamic Interface between Vacuoles and Mitochondria in Yeast

(2014) Yael Elbaz-Alon et al.   DEVELOPMENTAL CELL

Adaptations of Energy Metabolism Associated with Increased Levels of Mitochondrial Cholesterol in Niemann-Pick Type C1-deficient Cells

(2014) Barry E. Kennedy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The tubulin code: Molecular components, readout mechanisms, and functions

(2014) Carsten Janke   JOURNAL OF CELL BIOLOGY

Sphingolipid lysosomal storage disorders

(2014) Frances M. Platt   NATURE

Integrated regulation of motor-driven organelle transport by scaffolding proteins

(2014) Meng-meng Fu et al.   TRENDS IN CELL BIOLOGY

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

(2013) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel single-cell screening platform reveals proteome plasticity during yeast stress responses

(2013) Michal Breker et al.   JOURNAL OF CELL BIOLOGY

Sphingolipid signalling mediates mitochondrial dysfunctions and reduced chronological lifespan in the yeast model of Niemann-Pick type C1

(2013) Rita Vilaça et al.   MOLECULAR MICROBIOLOGY

Pre-Symptomatic Activation of Antioxidant Responses and Alterations in Glucose and Pyruvate Metabolism in Niemann-Pick Type C1-Deficient Murine Brain

(2013) Barry E. Kennedy et al.   PLoS One

Mechanisms of Mitochondrial Fission and Fusion

(2013) A. M. van der Bliek et al.   Cold Spring Harbor Perspectives in Biology

αTAT1 is the major α-tubulin acetyltransferase in mice

(2013) Nereo Kalebic et al.   Nature Communications

An “Exacerbate-reverse” Strategy in Yeast Identifies Histone Deacetylase Inhibition as a Correction for Cholesterol and Sphingolipid Transport Defects in Human Niemann-Pick Type C Disease

(2011) Andrew B. Munkacsi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A role for oxysterol-binding protein–related protein 5 in endosomal cholesterol trafficking

(2011) Ximing Du et al.   JOURNAL OF CELL BIOLOGY

Mitochondrial Fusion Is Required for mtDNA Stability in Skeletal Muscle and Tolerance of mtDNA Mutations

(2010) Hsiuchen Chen et al.   CELL

Myc-Nick: A Cytoplasmic Cleavage Product of Myc that Promotes α-Tubulin Acetylation and Cell Differentiation

(2010) Maralice Conacci-Sorrell et al.   CELL

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Improvement in Lipid and Protein Trafficking in Niemann-Pick C1 Cells by Correction of a Secondary Enzyme Defect

(2010) Cecilia Devlin et al.   TRAFFIC

SLP-2 is required for stress-induced mitochondrial hyperfusion

(2009) Daniel Tondera et al.   EMBO JOURNAL

Regulation of microtubule dynamics by inhibition of the tubulin deacetylase HDAC6

(2009) Y. Zilberman et al.   JOURNAL OF CELL SCIENCE

MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein

(2009) Mark Charman et al.   JOURNAL OF LIPID RESEARCH

Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment

(2008) Marc Walter et al.   BIOLOGY OF THE CELL

Niemann-Pick Type C1 I1061T Mutant Encodes a Functional Protein That Is Selected for Endoplasmic Reticulum-associated Degradation Due to Protein Misfolding

(2008) Mark E. Gelsthorpe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Therapeutic application of histone deacetylase inhibitors for central nervous system disorders

(2008) Aleksey G. Kazantsev et al.   NATURE REVIEWS DRUG DISCOVERY

Mitochondrial fragmentation in neurodegeneration

(2008) Andrew B. Knott et al.   NATURE REVIEWS NEUROSCIENCE

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

An in Vivo Map of the Yeast Protein Interactome

(2008) K. Tarassov et al.   SCIENCE