Lysosomal storage diseases—the horizon expands

Lysosomal storage diseases as disorders of autophagy

(2014) Carmine Settembre et al.   Autophagy

LAMP-2: A control step for phagosome and autophagosome maturation

(2014) Paul Saftig et al.   Autophagy

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

(2013) Jake N. Miller et al.   HUMAN MOLECULAR GENETICS

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

(2013) K. R. Smith et al.   HUMAN MOLECULAR GENETICS

Hydrocephalus in mucopolysaccharidosis Type VI successfully treated with endoscopic third ventriculostomy

(2013) Ângelo Raimundo da Silva Neto et al.   Journal of Neurosurgery-Pediatrics

Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients

(2013) Brandy Young-Gqamana et al.   PLoS One

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

(2012) John F. Staropoli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges

(2012) R.J. Desnick et al.   Annual Review of Genomics and Human Genetics

Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene

(2012) Shin-ichi Tokushige et al.   BRAIN & DEVELOPMENT

CLN5 and CLN8 protein association with ceramide synthase: Biochemical and proteomic approaches

(2012) Saria El Haddad et al.   ELECTROPHORESIS

Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease

(2012) Songtao Li et al.   FASEB JOURNAL

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

(2012) Yoav H. Messinger et al.   GENETICS IN MEDICINE

Gemfibrozil and Fenofibrate, Food and Drug Administration-approved Lipid-lowering Drugs, Up-regulate Tripeptidyl-peptidase 1 in Brain Cells via Peroxisome Proliferator-activated Receptor α

(2012) Arunava Ghosh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice

(2012) John A. Maga et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

δ-Tocopherol Reduces Lipid Accumulation in Niemann-Pick Type C1 and Wolman Cholesterol Storage Disorders

(2012) Miao Xu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Small fiber neuropathy in Fabry disease

(2012) Marieke Biegstraaten et al.   MOLECULAR GENETICS AND METABOLISM

Spinal Cord Compression in Maroteaux-Lamy Syndrome: Case Report and Review of the Literature with Effects of Enzyme Replacement Therapy

(2012) Agnieszka Jurecka et al.   PEDIATRIC NEUROSURGERY

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

(2011) Todor Arsov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome)

(2011) Jeong-Yi Kwon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Annexin A6 is recruited into lipid rafts of Niemann–Pick type C disease fibroblasts in a Ca2+-dependent manner

(2011) Magdalena M. Domon et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Lysosomes and lysosomal cathepsins in cell death

(2011) Urška Repnik et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Specific functions of lysosomal proteases in endocytic and autophagic pathways

(2011) Sabrina Müller et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

The peptidases of Trypanosoma cruzi: Digestive enzymes, virulence factors, and mediators of autophagy and programmed cell death

(2011) Vanina E. Alvarez et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Intracellular protein degradation: From a vague idea thru the lysosome and the ubiquitin–proteasome system and onto human diseases and drug targeting

(2011) Aaron Ciechanover   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Therapeutic Approaches to the Challenge of Neuronal Ceroid Lipofuscinoses

(2011) R. Kohan et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

The Yin and Yang of Microglia

(2011) Melinda Czeh et al.   DEVELOPMENTAL NEUROSCIENCE

Parkinsonism Associated with Glucocerebrosidase Mutation

(2011) Mun-Kyung Sunwoo et al.   Journal of Clinical Neurology

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy

(2011) Renzo Manara et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

(2011) Elizabeth A. Braunlin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle

(2011) Dwight D. Koeberl et al.   MOLECULAR GENETICS AND METABOLISM

Atypical immunologic response in a patient with CRIM-negative Pompe disease

(2011) Mary-Alice Abbott et al.   MOLECULAR GENETICS AND METABOLISM

Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction

(2011) Maria Francisca Coutinho et al.   MOLECULAR GENETICS AND METABOLISM

Teaching NeuroImages: Selective corticospinal tract involvement in late-onset Krabbe disease

(2011) R. Sehgal et al.   NEUROLOGY

Enzyme Replacement Therapy and/or Hematopoietic Stem Cell Transplantation at diagnosis in patients with Mucopolysaccharidosis type I: results of a European consensus procedure

(2011) Minke H de Ru et al.   Orphanet Journal of Rare Diseases

Predominant Corticospinal Tract Involvement in Early-Onset Krabbe Disease

(2011) Mahesh Kamate et al.   PEDIATRIC NEUROLOGY

Anti-TNF-Alpha Therapy Enhances the Effects of Enzyme Replacement Therapy in Rats with Mucopolysaccharidosis Type VI

(2011) Efrat Eliyahu et al.   PLoS One

Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis

(2011) Bruno A. Benitez et al.   PLoS One

Therapy for the mucopolysaccharidoses

(2011) V. Valayannopoulos et al.   RHEUMATOLOGY

Overview of the mucopolysaccharidoses

(2011) J. Muenzer   RHEUMATOLOGY

Clarifying lysosomal storage diseases

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

Genome Medicine: past, present and future

(2011) Charles Auffray et al.   Genome Medicine

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

(2010) E. Lukina et al.   BLOOD

Synophrys

(2010) Matthias Möhrenschlager et al.   European Journal of Medical Genetics

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

(2010) Einat B. Vitner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical aspects of neuropathic lysosomal storage disorders

(2010) Laura Bannach Jardim et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lithium rescues the impaired autophagy process in CbCln3Δex7/8/Δex7/8 cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition

(2010) Jae-Woong Chang et al.   JOURNAL OF NEUROCHEMISTRY

Immunosuppression alters disease severity in juvenile Batten disease mice

(2010) Sabrina S. Seehafer et al.   JOURNAL OF NEUROIMMUNOLOGY

Hsp70 stabilizes lysosomes and reverts Niemann–Pick disease-associated lysosomal pathology

(2010) Thomas Kirkegaard et al.   NATURE

Clinical Outcome of Cerebrospinal Fluid Shunting for Communicating Hydrocephalus in Mucopolysaccharidoses I, II, and III: A Retrospective Analysis of 13 Patients

(2010) Hamidreza Aliabadi et al.   NEUROSURGERY

Respiratory Manifestations in Mucopolysaccharidoses

(2010) Marianne S. Muhlebach et al.   Paediatric Respiratory Reviews

Design, Synthesis, and Biological Evaluation of Enantiomeric β-N-Acetylhexosaminidase Inhibitors LABNAc and DABNAc as Potential Agents against Tay-Sachs and Sandhoff Disease

(2009) J. S. Shane Rountree et al.   ChemMedChem

Protracted course of juvenile ceroid lipofuscinosis associated with a novelCLN3mutation (p.Y199X)

(2009) A Sarpong et al.   CLINICAL GENETICS

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

(2009) Barbara E Shapiro et al.   GENETICS IN MEDICINE

A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates

(2009) M. B Tropak et al.   GLYCOBIOLOGY

Pathogenic cascades in lysosomal disease—Why so complex?

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

Cherry-red spot

(2009) JC Suvarna et al.   Journal of Postgraduate Medicine

Substrate reduction therapy in juvenile GM2 gangliosidosis

(2009) Gustavo H.B. Maegawa et al.   MOLECULAR GENETICS AND METABOLISM

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

(2009) Paul Saftig et al.   NATURE REVIEWS MOLECULAR 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

Involvement of the Toll-like receptor 4 pathway and use of TNF-  antagonists for treatment of the mucopolysaccharidoses

(2009) C. M. Simonaro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

(2008) Samuel F. Berkovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Lysosomal disorders: From storage to cellular damage

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

Treating lysosomal storage disorders: Current practice and future prospects

(2008) Frances M. Platt et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed

(2008) S. Al Sawaf et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Innate and adaptive immune activation in the brain of MPS IIIB mouse model

(2008) Julianne DiRosario et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice

(2008) Adriana M. Montaño et al.   MOLECULAR GENETICS AND METABOLISM

CLN3p Impacts Galactosylceramide Transport, Raft Morphology, and Lipid Content

(2008) Elena Rusyn et al.   PEDIATRIC RESEARCH

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