Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight

CSF Levels of Heart Fatty Acid Binding Protein are Altered During Early Phases of Alzheimer's Disease

(2017) Davide Chiasserini et al.   JOURNAL OF ALZHEIMERS DISEASE

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

(2011) Ting Yu et al.   HUMAN MOLECULAR GENETICS

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

(2011) Xuntian Jiang et al.   JOURNAL OF LIPID RESEARCH

Unesterified Cholesterol Accumulation in Late Endosomes/Lysosomes Causes Neurodegeneration and Is Prevented by Driving Cholesterol Export from This Compartment

(2011) A. Aqul et al.   JOURNAL OF NEUROSCIENCE

Loss of amyloid precursor protein in a mouse model of Niemann–Pick type C disease exacerbates its phenotype and disrupts tau homeostasis

(2011) Ana Nunes et al.   NEUROBIOLOGY OF DISEASE

Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann–Pick type C1 mice

(2011) Sarah N.R. Pressey et al.   NEUROBIOLOGY OF DISEASE

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase- -deficient neutrophils in a congenital neutropenia syndrome

(2010) H. S. Jun et al.   BLOOD

WebGestalt2: an updated and expanded version of the Web-based Gene Set Analysis Toolkit

(2010) Dexter Duncan et al.   BMC BIOINFORMATICS

Activation of Rho GTPases in Smith–Lemli–Opitz syndrome: pathophysiological and clinical implications

(2010) Xiao-Sheng Jiang et al.   HUMAN MOLECULAR GENETICS

Fatty acid binding proteins in brain development and disease

(2010) Rong-Zong Liu et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Activation of Human VPS4A by ESCRT-III Proteins Reveals Ability of Substrates to Relieve Enzyme Autoinhibition

(2010) Samuel A. Merrill et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis

(2010) Xiao-Sheng Jiang et al.   MOLECULAR & CELLULAR PROTEOMICS

Oxidative stress activates the c-Abl/p73 proapoptotic pathway in Niemann-Pick type C neurons

(2010) Andres Klein et al.   NEUROBIOLOGY OF DISEASE

 -Secretase-dependent amyloid-  is increased in Niemann-Pick type C: A cross-sectional study

(2010) N. Mattsson et al.   NEUROLOGY

Differential expression of FABP 3, 5, 7 in infantile and adult monkey cerebellum

(2010) Nadezhda B. Boneva et al.   NEUROSCIENCE RESEARCH

Niemann-Pick Disease Type C: Unique 2-Deoxy-2[18F] Fluoro-d-Glucose PET Abnormality

(2010) Ajay Kumar et al.   PEDIATRIC NEUROLOGY

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

(2010) F. D. Porter et al.   Science Translational Medicine

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration

(2009) Matthew J. Elrick et al.   HUMAN MOLECULAR GENETICS

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

(2009) Marc C. Patterson et al.   JOURNAL OF CHILD NEUROLOGY

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

(2009) M. Pineda et al.   MOLECULAR GENETICS AND METABOLISM

l-Serine synthesis in the central nervous system: A review on serine deficiency disorders

(2009) L. Tabatabaie et al.   MOLECULAR GENETICS AND METABOLISM

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

(2009) M. Pineda et al.   MOLECULAR GENETICS AND METABOLISM

The ESCRT machinery in endosomal sorting of ubiquitylated membrane proteins

(2009) Camilla Raiborg et al.   NATURE

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

Neuronal Loss of Drosophila NPC1a Causes Cholesterol Aggregation and Age-Progressive Neurodegeneration

(2008) S. E. Phillips et al.   JOURNAL OF NEUROSCIENCE

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

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

Fatty acid-binding proteins: role in metabolic diseases and potential as drug targets

(2008) Masato Furuhashi et al.   NATURE REVIEWS DRUG DISCOVERY

Helical Structures of ESCRT-III Are Disassembled by VPS4

(2008) S. Lata et al.   SCIENCE