Complex N-Linked Glycosylation: A Potential Modifier of Niemann–Pick Disease, Type C1 Pathology

Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report

(2021) Hongling Fu et al.   International Journal of General Medicine

Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology

(2020) Niamh X. Cawley et al.   PLoS One

Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann–Pick Disease, Type C1

(2020) Niamh X. Cawley et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Genetic Variants of the MGAT5 Gene Are Functionally Implicated in the Modulation of T Cells Glycosylation and Plasma IgG Glycome Composition in Ulcerative Colitis

(2020) Márcia S. Pereira et al.   Clinical and Translational Gastroenterology

Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history

(2019) Simona E. Bianconi et al.   MOLECULAR GENETICS AND METABOLISM

Gastrointestinal Tract Pathology in a BALB/c Niemann–Pick Disease Type C1 Null Mouse Model

(2018) Antony Cougnoux et al.   DIGESTIVE DISEASES AND SCIENCES

N-glycome of the Lysosomal Glycocalyx is Altered in Niemann-Pick Type C Disease (NPC) Model Cells

(2018) Marko Kosicek et al.   MOLECULAR & CELLULAR PROTEOMICS

Metabolic control of T cell immune response through glycans in inflammatory bowel disease

(2018) Ana M. Dias et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lipid‐induced lysosomal damage after demyelination corrupts microglia protective function in lysosomal storage disorders

(2018) Enrique Gabandé‐Rodríguez et al.   EMBO JOURNAL

Impact of the Niemann–Pick c1 Gene Mutation on the Total Cellular Glycomics of CHO Cells

(2017) Jun-ichi Furukawa et al.   JOURNAL OF PROTEOME RESEARCH

Quantitative Analysis of the Proteome Response to the Histone Deacetylase Inhibitor (HDACi) Vorinostat in Niemann-Pick Type C1 disease

(2017) Kanagaraj Subramanian et al.   MOLECULAR & CELLULAR PROTEOMICS

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

(2016) Tobias Schwerd et al.   GUT

Heat Shock Protein Beta-1 Modifies Anterior to Posterior Purkinje Cell Vulnerability in a Mouse Model of Niemann-Pick Type C Disease

(2016) Chan Chung et al.   PLoS Genetics

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database

(2015) Jackie Imrie et al.   BMC 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

Role of tumor cell surface lysosome-associated membrane protein-1 (LAMP1) and its associated carbohydrates in lung metastasis

(2015) Akhil Kumar Agarwal et al.   JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY

Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells

(2015) Jian Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Knockdown of Mgat5 Inhibits Breast Cancer Cell Growth with Activation of CD4+ T Cells and Macrophages

(2014) D. Li et al.   JOURNAL OF IMMUNOLOGY

Lysosomal Membrane Proteins and Their Central Role in Physiology

(2013) Michael Schwake et al.   TRAFFIC

Altered apolipoprotein E glycosylation is associated with Aβ(42) accumulation in an animal model of Niemann-Pick Type C disease

(2010) Ching-Ching Chua et al.   JOURNAL OF NEUROCHEMISTRY

MGAT5 alters the severity of multiple sclerosis

(2010) B. Brynedal et al.   JOURNAL OF NEUROIMMUNOLOGY

MGAT5 and disease severity in progressive multiple sclerosis

(2010) Federica Esposito et al.   JOURNAL OF NEUROIMMUNOLOGY

Hsp70 stabilizes lysosomes and reverts Niemann–Pick disease-associated lysosomal pathology

(2010) Thomas Kirkegaard et al.   NATURE

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

(2010) Stephan J. Guyenet et al.   Jove-Journal of Visualized Experiments

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

(2009) Nicole M. Yanjanin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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

(2009) Hyock Joo Kwon et al.   CELL

Secondary lipid accumulation in lysosomal disease

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

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