Cellular pathogenesis in sphingolipid storage disorders: the quest for new therapeutic approaches

Lysosomal storage diseases as disorders of autophagy

(2014) Carmine Settembre et al.   Autophagy

Gene Therapy for Lysosomal Storage Diseases (LSDs) in Large Animal Models

(2013) M. Haskins   ILAR JOURNAL

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

(2009) Hyock Joo Kwon et al.   CELL

No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease

(2009) T. Farfel-Becker et al.   HUMAN MOLECULAR GENETICS

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

Current Enzyme Replacement Therapy for the Treatment of Lysosomal Storage Diseases

(2009) Elizabeth R. Lim-Melia et al.   PEDIATRIC ANNALS

ARF6-Mediated Endosome Recycling Reverses Lipid Accumulation Defects in Niemann-Pick Type C Disease

(2009) Jill Kuglin Schweitzer et al.   PLoS One

Neural Stem Cell Transplantation Benefits a Monogenic Neurometabolic Disorder During the Symptomatic Phase of Disease

(2009) Mylvaganam Jeyakumar et al.   STEM CELLS

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis

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

Autophagy in neurodegeneration and development

(2008) Ashley R. Winslow et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Autophagy: Principles and significance in health and disease

(2008) Virginia Todde et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins

(2008) Thomas Dierks et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Autophagy: A lysosomal degradation pathway with a central role in health and disease

(2008) Eeva-Liisa Eskelinen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Sorting of lysosomal proteins

(2008) Thomas Braulke 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

Lysosomal disorders: From storage to cellular damage

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

Treatment of Late Infantile Neuronal Ceroid Lipofuscinosis by CNS Administration of a Serotype 2 Adeno-Associated Virus Expressing CLN2 cDNA

(2008) Stefan Worgall et al.   HUMAN GENE THERAPY

Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease

(2008) Maria Fuller et al.   MOLECULAR GENETICS AND METABOLISM

Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells

(2008) Jin-Song Shen et al.   MOLECULAR GENETICS AND METABOLISM

Mannose 6-Phosphate Receptor–mediated Transport of Sulfamidase Across the Blood–brain Barrier in the Newborn Mouse

(2008) Akihiko Urayama et al.   MOLECULAR THERAPY

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

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

Lysosomal membrane permeabilization in cell death

(2008) P Boya et al.   ONCOGENE

Stem Cell Therapies for the Lysosomal Storage Diseases – the Quintessential Neurodegenerative Diseases

(2008) Philip Schwartz et al.   Current Stem Cell Research & Therapy

Partial Restoration of Mutant Enzyme Homeostasis in Three Distinct Lysosomal Storage Disease Cell Lines by Altering Calcium Homeostasis

(2008) Ting-Wei Mu et al.   PLOS BIOLOGY