The cellular pathology of lysosomal diseases

From Serendipity to Therapy

(2011) Elizabeth F. Neufeld   Annual Review of Biochemistry

The unfolded protein response and proteostasis in Alzheimer disease

(2011) Wiep Scheper et al.   Autophagy

Analysis of mammalian sphingolipids by liquid chromatography tandem mass spectrometry (LC-MS/MS) and tissue imaging mass spectrometry (TIMS)

(2011) M. Cameron Sullards et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

(2011) Joseph R. Mazzulli et al.   CELL

Lysosomal Ca2+ homeostasis: Role in pathogenesis of lysosomal storage diseases

(2011) Emyr Lloyd-Evans et al.   CELL CALCIUM

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways

(2011) Michela Palmieri et al.   HUMAN MOLECULAR GENETICS

Lysosomal Proteolysis Inhibition Selectively Disrupts Axonal Transport of Degradative Organelles and Causes an Alzheimer's-Like Axonal Dystrophy

(2011) S. Lee et al.   JOURNAL OF NEUROSCIENCE

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

(2011) Stephen Sawcer et al.   NATURE

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

(2011) Tracy A Briggs et al.   NATURE GENETICS

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Exploring the link between glucocerebrosidase mutations and parkinsonism

(2011) Wendy Westbroek et al.   TRENDS IN MOLECULAR MEDICINE

Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy

(2010) Steven U. Walkley et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Potential biomarkers of osteonecrosis in Gaucher disease

(2010) Elena V. Pavlova et al.   BLOOD CELLS MOLECULES AND DISEASES

Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice

(2010) Danielle te Vruchte et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

(2010) Helena Poupětová et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A Fascination with Sugars

(2010) Stuart Kornfeld   MOLECULAR BIOLOGY OF THE CELL

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Regulation of Mammalian Autophagy in Physiology and Pathophysiology

(2010) Brinda Ravikumar et al.   PHYSIOLOGICAL REVIEWS

Thymic Alterations in GM2 Gangliosidoses Model Mice

(2010) Seiichi Kanzaki et al.   PLoS One

Control of metabolism and signaling of simple bioactive sphingolipids: Implications in disease

(2010) Patricia Gangoiti et al.   PROGRESS IN LIPID RESEARCH

The proteome of lysosomes

(2010) Bernd A. Schröder et al.   PROTEOMICS

SCARB2mutations in progressive myoclonus epilepsy (PME) without renal failure

(2009) L.M. Dibbens et al.   ANNALS OF NEUROLOGY

Lysosomal degradation of membrane lipids

(2009) Thomas Kolter et al.   FEBS LETTERS

Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand β-glucocerebrosidase

(2009) Judith Blanz et al.   HUMAN MOLECULAR GENETICS

NAADP mobilizes calcium from acidic organelles through two-pore channels

(2009) Peter J. Calcraft et al.   NATURE

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

(2009) Paul Saftig et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Critical role of iron in the pathogenesis of the murine gangliosidoses

(2009) Mylvaganam Jeyakumar et al.   NEUROBIOLOGY OF DISEASE

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

(2008) Marjan Huizing et al.   Annual Review of Genomics and Human Genetics

Proteomics of the lysosome

(2008) Torben Lübke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Principles of lysosomal membrane degradation

(2008) Heike Schulze et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

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

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

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA