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

Microglia activation in Niemann–Pick disease, type C1 is amendable to therapeutic intervention

(2018) Antony Cougnoux et al.   HUMAN MOLECULAR GENETICS

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

Hydroxypropyl-beta and -gamma cyclodextrins rescue cholesterol accumulation in Niemann–Pick C1 mutant cell via lysosome-associated membrane protein 1

(2018) Ashutosh Singhal et al.   Cell Death & Disease

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

Developmental delay in motor skill acquisition in Niemann-Pick C1 mice reveals abnormal cerebellar morphogenesis

(2016) Paola Caporali et al.   Acta Neuropathologica Communications

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

LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease

(2015) Michelle Rothaug et al.   Acta Neuropathologica Communications

The Transcription Factor IRF8 Activates Integrin-Mediated TGF-β Signaling and Promotes Neuroinflammation

(2014) Yuko Yoshida et al.   IMMUNITY

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

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

Tissue-resident macrophages originate from yolk-sac-derived erythro-myeloid progenitors

(2014) Elisa Gomez Perdiguero et al.   NATURE

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1

(2013) Stephanie M. Cologna et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lysosomal Membrane Proteins and Their Central Role in Physiology

(2013) Michael Schwake et al.   TRAFFIC

Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration

(2011) Ting Yu et al.   HUMAN MOLECULAR GENETICS

Anatomically Defined Neuron-Based Rescue of Neurodegenerative Niemann-Pick Type C Disorder

(2011) M. E. Lopez et al.   JOURNAL OF NEUROSCIENCE

Alteration of Gene Expression Profile in Niemann-Pick Type C Mice Correlates with Tissue Damage and Oxidative Stress

(2011) Mary C. Vázquez et al.   PLoS One

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

Abnormal gene expression in cerebellum of Npc1−/− mice during postnatal development

(2010) Guanghong Liao et al.   BRAIN RESEARCH

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

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

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

(2009) Hyock Joo Kwon et al.   CELL

Neuropathology of the Mcoln1−/− Knockout Mouse Model of Mucolipidosis Type IV

(2009) Matthew C. Micsenyi et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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