Animal models for lysosomal storage disorders

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

(2013) M. Haskins   ILAR JOURNAL

Autophagy in astrocytes

(2012) Chiara Di Malta et al.   Autophagy

Autophagic dysfunction in a lysosomal storage disorder due to impaired proteolysis

(2012) Matthew J. Elrick et al.   Autophagy

Endocytosis and autophagy: Shared machinery for degradation

(2012) Christopher A. Lamb et al.   BIOESSAYS

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II ‘knock-in’ mice

(2012) K. Kollmann et al.   BRAIN

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

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

Amyloid-β metabolism in Niemann-Pick C disease models and patients

(2012) Niklas Mattsson et al.   METABOLIC BRAIN DISEASE

A shortcut to the lysosome: The mannose-6-phosphate-independent pathway

(2012) Maria Francisca Coutinho et al.   MOLECULAR GENETICS AND METABOLISM

Enzyme replacement therapy in patients with Fabry disease: State of the art and review of the literature

(2012) Antonio Pisani et al.   MOLECULAR GENETICS AND METABOLISM

Lysosomal enzyme can bypass the blood–brain barrier and reach the CNS following intranasal administration

(2012) Daniel A. Wolf et al.   MOLECULAR GENETICS AND METABOLISM

Dysregulation of Gene Expression in a Lysosomal Storage Disease Varies between Brain Regions Implicating Unexpected Mechanisms of Neuropathology

(2012) Michael K. Parente et al.   PLoS One

Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB

(2012) Fiona L. Wilkinson et al.   PLoS One

Cardiomyopathy and Response to Enzyme Replacement Therapy in a Male Mouse Model for Fabry Disease

(2012) Aurelie Nguyen Dinh Cat et al.   PLoS One

Sensitivity to Lysosome-Dependent Cell Death Is Directly Regulated by Lysosomal Cholesterol Content

(2012) Hanna Appelqvist et al.   PLoS One

Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality

(2011) Kim M. Hemsley et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis

(2011) Brian R. Vuillemenot et al.   MOLECULAR GENETICS AND METABOLISM

Mucolipidosis type IV: An update

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

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

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

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

(2010) Anton I. Rosenbaum et al.   JOURNAL OF NEUROCHEMISTRY

Cardiac challenges in patients with Fabry disease

(2009) F. Weidemann et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Pathogenic cascades in lysosomal disease—Why so complex?

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