Autophagy in lysosomal storage disorders

Lysosomal storage diseases as disorders of autophagy

(2014) Carmine Settembre et al.   Autophagy

Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten

(2012) Nina Raben et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Endosomal/Lysosomal Processing of Gangliosides Affects Neuronal Cholesterol Sequestration in Niemann-Pick Disease Type C

(2011) Sharon Zhou et al.   AMERICAN JOURNAL OF PATHOLOGY

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

Lysosomal enhancement: A CLEAR answer to cellular degradative needs

(2011) Marco Sardiello et al.   CELL CYCLE

Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance

(2011) Diego L. Medina et al.   DEVELOPMENTAL CELL

Sphingolipid Storage Affects Autophagic Metabolism of the Amyloid Precursor Protein and Promotes A  Generation

(2011) I. Y. Tamboli et al.   JOURNAL OF NEUROSCIENCE

Mucolipidosis type IV: An update

(2011) Kazuyo Wakabayashi et al.   MOLECULAR GENETICS AND METABOLISM

Role of TRP Channels in the Regulation of the Endosomal Pathway

(2011) Ken Abe et al.   PHYSIOLOGY

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Clarifying lysosomal storage diseases

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

Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder—murine Pompe disease

(2010) Nina Raben et al.   Autophagy

Autophagy inhibition induces atrophy and myopathy in adult skeletal muscles

(2010) Eva Masiero et al.   Autophagy

Autophagosome maturation is impaired in Fabry disease

(2010) Marc Chévrier et al.   Autophagy

Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 Mutations

(2010) Ju-Hyun Lee et al.   CELL

Methods in Mammalian Autophagy Research

(2010) Noboru Mizushima et al.   CELL

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

(2010) Alessandro Fraldi et al.   EMBO JOURNAL

Mucolipins: Intracellular TRPML1-3 channels

(2010) Xiping Cheng et al.   FEBS LETTERS

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

(2010) A. M. Vaccaro et al.   HUMAN MOLECULAR GENETICS

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

(2010) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease

(2010) Sengen Xu et al.   JOURNAL OF APPLIED PHYSIOLOGY

Starch Binding Domain-containing Protein 1/Genethonin 1 Is a Novel Participant in Glycogen Metabolism

(2010) Sixin Jiang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy

(2010) D. A. Zeevi et al.   JOURNAL OF CELL SCIENCE

Pathogenic Lysosomal Depletion in Parkinson's Disease

(2010) B. Dehay et al.   JOURNAL OF NEUROSCIENCE

Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

(2010) Nina Raben et al.   MOLECULAR GENETICS AND METABOLISM

Pathology of the first autopsy case diagnosed as mucolipidosis type III α/β suggesting autophagic dysfunction

(2010) Hiroshi Kobayashi et al.   MOLECULAR GENETICS AND METABOLISM

Termination of autophagy and reformation of lysosomes regulated by mTOR

(2010) Li Yu et al.   NATURE

Macroautophagy is defective in mucolipin-1-deficient mouse neurons

(2010) Cyntia Curcio-Morelli et al.   NEUROBIOLOGY OF DISEASE

Pathology and Current Treatment of Neurodegenerative Sphingolipidoses

(2010) Matthias Eckhardt   NEUROMOLECULAR MEDICINE

PI(3,5)P2 controls membrane trafficking by direct activation of mucolipin Ca2+ release channels in the endolysosome

(2010) Xian-ping Dong et al.   Nature Communications

Mechanisms and consequences of impaired lipid trafficking in Niemann–Pick type C1-deficient mammalian cells

(2009) Barbara Karten et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

(2009) Hyock Joo Kwon et al.   CELL

Chaperone-mediated autophagy is defective in mucolipidosis type IV

(2009) Bhuvarahamurthy Venugopal et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Functional multimerization of mucolipin channel proteins

(2009) Cyntia Curcio-Morelli et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Pathogenic cascades in lysosomal disease—Why so complex?

(2009) S. U. Walkley   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts

(2009) Takanobu Otomo et al.   MOLECULAR GENETICS AND METABOLISM

Distinct regulation of autophagic activity by Atg14L and Rubicon associated with Beclin 1–phosphatidylinositol-3-kinase complex

(2009) Yun Zhong et al.   NATURE CELL BIOLOGY

Lysosomal Storage Disorders in the Newborn

(2009) O. Staretz-Chacham et al.   PEDIATRICS

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

Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy

(2009) K. Ohmi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Ca2+Channel TRPML3 Regulates Membrane Trafficking and Autophagy

(2009) Hyun Jin Kim et al.   TRAFFIC

Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis

(2008) Ayumi Takamura et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Regulation of Sterol Transport between Membranes and NPC2†

(2008) Zhi Xu et al.   BIOCHEMISTRY

Lysosomal disorders: From storage to cellular damage

(2008) Andrea Ballabio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Rapamycin and mTOR-independent autophagy inducers ameliorate toxicity of polyglutamine-expanded huntingtin and related proteinopathies

(2008) S Sarkar et al.   CELL DEATH AND DIFFERENTIATION

Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification

(2008) C. Settembre et al.   GENES & DEVELOPMENT

Autophagic dysfunction in mucolipidosis type IV patients

(2008) Silvia Vergarajauregui et al.   HUMAN MOLECULAR GENETICS

Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease

(2008) N. Raben et al.   HUMAN MOLECULAR GENETICS

Structural Basis for Sorting Mechanism of p62 in Selective Autophagy

(2008) Yoshinobu Ichimura et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autophagy Induction and Autophagosome Clearance in Neurons: Relationship to Autophagic Pathology in Alzheimer's Disease

(2008) B. Boland et al.   JOURNAL OF NEUROSCIENCE

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET

The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel

(2008) Xian-Ping Dong et al.   NATURE

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