Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD

CCPG1 Is a Non-canonical Autophagy Cargo Receptor Essential for ER-Phagy and Pancreatic ER Proteostasis

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Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia

(2018) Ravi Chopra et al.   HUMAN MOLECULAR GENETICS

LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss

(2018) Brittney L Gurda et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

ER homeostasis and autophagy

(2017) Matthew Smith et al.   Essays in Biochemistry

New Insights into the Physiological Role of Endoplasmic Reticulum-Associated Degradation

(2017) Ling Qi et al.   TRENDS IN CELL BIOLOGY

Full length RTN3 regulates turnover of tubular endoplasmic reticulum via selective autophagy

(2017) Paolo Grumati et al.   eLife

Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease

(2016) Mark L. Schultz et al.   BRAIN RESEARCH

Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection

(2016) Xin Gong et al.   CELL

A Conserved C-terminal Element in the Yeast Doa10 and Human MARCH6 Ubiquitin Ligases Required for Selective Substrate Degradation

(2016) Dimitrios Zattas et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Translocon component Sec62 acts in endoplasmic reticulum turnover during stress recovery

(2016) Fiorenza Fumagalli et al.   NATURE CELL BIOLOGY

Mechanistic insights into selective autophagy pathways: lessons from yeast

(2016) Jean-Claude Farré et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation

(2016) Oznur Bayraktar et al.   PLoS One

Structure of human Niemann–Pick C1 protein

(2016) Xiaochun Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

(2015) M. Praggastis et al.   JOURNAL OF NEUROSCIENCE

Regulation of endoplasmic reticulum turnover by selective autophagy

(2015) Aliaksandr Khaminets et al.   NATURE

Receptor-mediated selective autophagy degrades the endoplasmic reticulum and the nucleus

(2015) Keisuke Mochida et al.   NATURE

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

A Role for Macro-ER-Phagy in ER Quality Control

(2015) Zhanna Lipatova et al.   PLoS Genetics

Squalene mono-oxygenase, a key enzyme in cholesterol synthesis, is stabilized by unsaturated fatty acids

(2014) Julian Stevenson et al.   BIOCHEMICAL JOURNAL

Deficient Chaperone-Mediated Autophagy in Liver Leads to Metabolic Dysregulation

(2014) Jaime L. Schneider et al.   Cell Metabolism

Glycoprotein folding and quality-control mechanisms in protein-folding diseases

(2014) S. P. Ferris et al.   Disease Models & Mechanisms

Endoplasmic Reticulum-associated Degradation of Niemann-Pick C1

(2014) Naoe Nakasone et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The E3 Ubiquitin Ligase MARCH6 Degrades Squalene Monooxygenase and Affects 3-Hydroxy-3-Methyl-Glutaryl Coenzyme A Reductase and the Cholesterol Synthesis Pathway

(2014) N. Zelcer et al.   MOLECULAR AND CELLULAR BIOLOGY

Quality Control Autophagy Degrades Soluble ERAD-Resistant Conformers of the Misfolded Membrane Protein GnRHR

(2014) Scott A. Houck et al.   MOLECULAR CELL

The autophagic defect in Niemann–Pick disease type C neurons differs from somatic cells and reduces neuronal viability

(2014) Volker Meske et al.   NEUROBIOLOGY OF DISEASE

Sel1L is indispensable for mammalian endoplasmic reticulum-associated degradation, endoplasmic reticulum homeostasis, and survival

(2014) Shengyi Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) Sovan Sarkar et al.   Cell Reports

Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann–Pick type C disease fibroblasts

(2012) Ting Yu et al.   HUMAN MOLECULAR GENETICS

Impaired proteolysis underlies autophagic dysfunction in Niemann–Pick type C disease

(2012) Matthew J. Elrick et al.   HUMAN MOLECULAR GENETICS

Cdc48/p97, a key actor in the interplay between autophagy and ubiquitin/proteasome catabolic pathways

(2011) Catherine Dargemont et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

(2011) Carolina Tängemo et al.   JOURNAL OF LIPID RESEARCH

Clarifying lysosomal storage diseases

(2011) Mark L. Schultz et al.   TRENDS IN NEUROSCIENCES

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

(2010) Emilie Tresse et al.   Autophagy

Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis

(2010) Derrick Sek Tong Ong et al.   Nature Chemical Biology

Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease

(2010) Marta Martinez-Vicente et al.   NATURE NEUROSCIENCE

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

An Autophagy-Enhancing Drug Promotes Degradation of Mutant  1-Antitrypsin Z and Reduces Hepatic Fibrosis

(2010) T. Hidvegi et al.   SCIENCE

Autophagy regulates lipid metabolism

(2009) Rajat Singh et al.   NATURE

Niemann-Pick Type C1 I1061T Mutant Encodes a Functional Protein That Is Selected for Endoplasmic Reticulum-associated Degradation Due to Protein Misfolding

(2008) Mark E. Gelsthorpe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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