Results 71 to 80 of about 6,691 (192)
Molecular Genetics and Metabolism Reports, 2019 Gangliosidoses, including GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease), are lysosomal disorders resulting from enzyme deficiencies and accumulation of gangliosides.
Li Ou +3 more
doaj +1 more source
Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio +7 more
wiley +1 more source
Animal models of GM2 gangliosidosis: utility and limitations
The Application of Clinical Genetics, 2016 Cheryl A Lawson,1,2 Douglas R Martin2,3 1Department of Pathobiology, 2Scott-Ritchey Research Center, 3Department of Anatomy, Physiology and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, USA Abstract: GM2 gangliosidosis, a ...
Lawson CA, Martin DR
doaj
Metabolites, 2020 Sandhoff disease (SD) is a lysosomal disease caused by mutations in the gene coding for the β subunit of β-hexosaminidase, leading to deficiency in the enzymes β-hexosaminidase (HEX) A and B.
Emmanuelle Lecommandeur +6 more
doaj +1 more source
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions
European Journal of Neurology, Volume 32, Issue 5, May 2025.GALC Defects and Neurodegenerative Impact: Exploring the role of GALC variants in adults with neurodegenerative symptoms and identifying an undiagnosed case of adult‐onset Krabbe disease. Metabolic Interplay: Focus on interrelated pathways as potential risk factors for neurodegeneration in heterozygous lysosomal storage disorder carriers.
Federica Feo +17 more
wiley +1 more source
Research on pharmacological chaperone for β-N-acetylhexosaminidase [PDF]
, 2016 富山大学・富医薬博甲第205号・中川 進平・2016/03 ...
中川 進平
core +1 more source
Roles and regulation of membrane-associated serine proteases [PDF]
, 2007 Pericellular proteolytic activity affects many aspects of cellular behaviour, via mechanisms involving processing of the extracellular matrix, growth factors and receptors.
Bass, Rosemary +4 more
core +1 more source
Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis
Clinical and Translational Science, Volume 18, Issue 3, March 2025.ABSTRACT GM1 and GM2 gangliosidosis are inherited, progressive, neurodegenerative lysosomal disorders of variable onset and disease progression. GM1 gangliosidosis is a result of biallelic pathogenic variants in the GLB1 gene, which confer absent or reduced β‐galactosidase enzyme activity and lead to the accumulation of glycoconjugates such as ...
Sydney Stern +4 more
wiley +1 more source
Metallothioneins as dynamic markers for brain disease in lysosomal disorders [PDF]
, 2015 Objective: To facilitate development of novel disease-modifying therapies for lysosomal storage disorder (LSDs) characterized by nervous system involvement such as metachromatic leukodystrophy (MLD), molecular markers for monitoring disease progression ...
Biffi, Alessandra +12 more
core +1 more source
Organelle‐Targeting Nanoparticles
Advanced Science, Volume 12, Issue 7, February 17, 2025.This review examines nanoparticle‐based therapies targeting organelles like the nucleus, mitochondria, and lysosomes. Nanoparticle design, targeting strategies, and their applications in treating diseases linked to organelle dysfunction are discussed, highlighting the potential for improved treatment outcomes and reduced off‐target effects.
John Soukar +2 more
wiley +1 more source