TMEM241 is a UDP-N-acetylglucosamine transporter required for M6P modification of NPC2 and cholesterol transport

Delivery of low-density lipoprotein from endocytic carriers to mitochondria supports steroidogenesis

(2023) Yu-Xia Zhou et al.   NATURE CELL BIOLOGY

The Niemann-Pick type diseases – A synopsis of inborn errors in sphingolipid and cholesterol metabolism

(2023) Frank W. Pfrieger   PROGRESS IN LIPID RESEARCH

Lysosomal cholesterol accumulation is commonly found in most peroxisomal disorders and reversed by 2-hydroxypropyl-β-cyclodextrin

(2023) Lewei Dong et al.   Science China-Life Sciences

Ablation of Plasma Prekallikrein Decreases LDL Cholesterol by Stabilizing LDL Receptor and Protects against Atherosclerosis

(2022) Jin-Kai Wang et al.   CIRCULATION

Cross-tissue immune cell analysis reveals tissue-specific features in humans

(2022) C. Domínguez Conde et al.   SCIENCE

Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function

(2022) Gökcen Eraslan et al.   SCIENCE

Delivery of Nucleotide Sugars to the Mammalian Golgi: A Very Well (un)Explained Story

(2022) Dorota Maszczak-Seneczko et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection

(2022) Christopher M. Richards et al.   SCIENCE

The conserved autoimmune-disease risk gene TMEM39A regulates lysosome dynamics

(2021) Shuo Luo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural basis for itraconazole-mediated NPC1 inhibition

(2020) Tao Long et al.   Nature Communications

Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2

(2020) Hongwu Qian et al.   CELL

POST1/C12ORF49 regulates the SREBP pathway by promoting site-1 protease maturation

(2020) Jian Xiao et al.   Protein & Cell

Cholesterol transport through the peroxisome-ER membrane contacts tethered by PI(4,5)P2 and extended synaptotagmins

(2019) Jian Xiao et al.   Science China-Life Sciences

AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis

(2019) Daniel R. Gulbranson et al.   DEVELOPMENTAL CELL

Endogenous sterol intermediates of the mevalonate pathway regulate HMGCR degradation and SREBP-2 processing

(2019) Liang Chen et al.   JOURNAL OF LIPID RESEARCH

The characteristics and biological significance of NPC2: Mutation and disease

(2019) Yanan Xu et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Mechanisms and regulation of cholesterol homeostasis

(2019) Jie Luo et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Targeted analysis of lysosomal directed proteins and their sites of mannose-6-phosphate modification

(2018) Tomislav Caval et al.   MOLECULAR & CELLULAR PROTEOMICS

Intracellular Cholesterol Transport by Sterol Transfer Proteins at Membrane Contact Sites

(2018) Jie Luo et al.   TRENDS IN BIOCHEMICAL SCIENCES

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease

(2017) Chang Xie et al.   JOURNAL OF LIPID RESEARCH

Routes and mechanisms of post-endosomal cholesterol trafficking: A story that never ends

(2017) Jie Luo et al.   TRAFFIC

The GARP Complex Is Involved in Intracellular Cholesterol Transport via Targeting NPC2 to Lysosomes

(2017) Jian Wei et al.   Cell Reports

Cholesterol Transport through Lysosome-Peroxisome Membrane Contacts

(2015) Bei-Bei Chu et al.   CELL

Identification of NPC1 as the target of U18666A, an inhibitor of lysosomal cholesterol export and Ebola infection

(2015) Feiran Lu et al.   eLife

The Roles of Lysosomes in Inflammation and Autoimmune Diseases

(2014) Wei Ge et al.   INTERNATIONAL REVIEWS OF IMMUNOLOGY

Improved vectors and genome-wide libraries for CRISPR screening

(2014) Neville E Sanjana et al.   NATURE METHODS

A human genome-wide screen for regulators of clathrin-coated vesicle formation reveals an unexpected role for the V-ATPase

(2012) Patrycja Kozik et al.   NATURE CELL BIOLOGY

Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction

(2011) Maria Francisca Coutinho et al.   MOLECULAR GENETICS AND METABOLISM

A Key Enzyme in the Biogenesis of Lysosomes Is a Protease That Regulates Cholesterol Metabolism

(2011) K. Marschner et al.   SCIENCE

A Novel Single-Chain Antibody Fragment for Detection of Mannose 6-Phosphate-Containing Proteins

(2010) Sven Müller-Loennies et al.   AMERICAN JOURNAL OF PATHOLOGY

Lysosomal α-Galactosidase Controls the Generation of Self Lipid Antigens for Natural Killer T Cells

(2010) Alexandre Darmoise et al.   IMMUNITY

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Niemann–Pick C2 (NPC2) and intracellular cholesterol trafficking

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

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

(2009) Hyock Joo Kwon et al.   CELL