A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy

Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases

(2020) Jacob M. Favret et al.   Frontiers in Molecular Biosciences

Impaired autophagy in microglia aggravates dopaminergic neurodegeneration by regulating NLRP3 inflammasome activation in experimental models of Parkinson’s disease

(2020) Yue Qin et al.   BRAIN BEHAVIOR AND IMMUNITY

Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy

(2019) Hiroko Yanagisawa et al.   MOLECULAR GENETICS AND METABOLISM

Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development

(2019) Laura E. Kuil et al.   GLIA

Lysosomal Glycosphingolipid Storage Diseases

(2019) Bernadette Breiden et al.   Annual Review of Biochemistry

LC3-Associated Endocytosis Facilitates β-Amyloid Clearance and Mitigates Neurodegeneration in Murine Alzheimer’s Disease

(2019) Bradlee L. Heckmann et al.   CELL

Gene-Based Approaches to Inherited Neurometabolic Diseases

(2019) Valentina Poletti et al.   HUMAN GENE THERAPY

Biomedical Implications of Autophagy in Macromolecule Storage Disorders

(2019) Adina Maria Palhegyi et al.   Frontiers in Cell and Developmental Biology

Intracerebroventricular enzyme replacement therapy with Beta-Galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice

(2019) Joseph C Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysosomes as dynamic regulators of cell and organismal homeostasis

(2019) Andrea Ballabio et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention

(2019) Carlos R. Ferreira et al.   BONE

Unique molecular signature in mucolipidosis type IV microglia

(2019) Antony Cougnoux et al.   Journal of Neuroinflammation

Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency

(2018) Parisa Lotfi et al.   Autophagy

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis

(2018) Jin Sook Lee et al.   BRAIN & DEVELOPMENT

Therapeutic Benefit of Autophagy Modulation in Pompe Disease

(2018) Jeong-A Lim et al.   MOLECULAR THERAPY

Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis

(2018) Yuyu Feng et al.   METABOLIC BRAIN DISEASE

Lipid‐induced lysosomal damage after demyelination corrupts microglia protective function in lysosomal storage disorders

(2018) Enrique Gabandé‐Rodríguez et al.   EMBO JOURNAL

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B

(2018) Michael J. Przybilla et al.   MOLECULAR GENETICS AND METABOLISM

A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin

(2016) Kerri J. Kinghorn et al.   JOURNAL OF NEUROSCIENCE

Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan

(2015) Cara M. Weismann et al.   HUMAN MOLECULAR GENETICS

Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses

(2015) Jeanine R. Jarnes Utz et al.   MOLECULAR GENETICS AND METABOLISM

Neuroinflammatory paradigms in lysosomal storage diseases

(2015) Megan E. Bosch et al.   Frontiers in Neuroscience

Genetic and Chemical Correction of Cholesterol Accumulation and Impaired Autophagy in Hepatic and Neural Cells Derived from Niemann-Pick Type C Patient-Specific iPS Cells

(2014) Dorothea Maetzel et al.   Stem Cell Reports

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

(2011) Kenneth J. Valenzano et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis

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

Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis

(2008) Douglas R. Martin et al.   MOLECULAR GENETICS AND METABOLISM

GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects

(2008) Nicola Brunetti-Pierri et al.   MOLECULAR GENETICS AND METABOLISM