Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1

Cln1gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders

(2015) Goutam Chandra et al.   HUMAN MOLECULAR GENETICS

The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations

(2014) Judit Macías-Vidal et al.   FEBS Journal

Plasma Signature of Neurological Disease in the Monogenetic Disorder Niemann-Pick Type C

(2014) Md. Suhail Alam et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Complex lipid trafficking in Niemann-Pick disease type C

(2014) Marie T. Vanier   JOURNAL OF INHERITED METABOLIC DISEASE

The Cytosolic Adaptor AP-1A Is Essential for the Trafficking and Function of Niemann-Pick Type C Proteins

(2013) Steve Poirier et al.   TRAFFIC

Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

(2013) Sovan Sarkar et al.   Cell Reports

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

(2012) Celine V.M. Cluzeau et al.   HUMAN MOLECULAR GENETICS

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding

(2011) M. S. Deffieu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular analysis of 30 Niemann-Pick type C patients from Spain

(2010) J Macías-Vidal et al.   CLINICAL GENETICS

Increased Activity and Altered Subcellular Distribution of Lysosomal Enzymes Determine Neuronal Vulnerability in Niemann-Pick Type C1-Deficient Mice

(2009) Asha Amritraj et al.   AMERICAN JOURNAL OF PATHOLOGY

Niemann-Pick C1 Functions Independently of Niemann-Pick C2 in the Initial Stage of Retrograde Transport of Membrane-impermeable Lysosomal Cargo

(2009) Stephen D. B. Goldman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cathepsin D—Many functions of one aspartic protease

(2008) Petr Benes et al.   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY