Results 51 to 60 of about 2,137 (206)
Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses
Journal of Lipid Research, 2015 Bis(monoacylglycero)phosphate (BMP) is a negatively charged glycerophospholipid with an unusual sn-1;sn-1′ structural configuration. BMP is primarily enriched in endosomal/lysosomal membranes.
Zeynep Akgoc +5 more
doaj +1 more source
Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model
Molecular Therapy: Methods & Clinical Development, 2019 GM2 gangliosidoses are a family of severe neurodegenerative disorders resulting from a deficiency in the β-hexosaminidase A enzyme. These disorders include Tay-Sachs disease and Sandhoff disease, caused by mutations in the HEXA gene and HEXB gene ...
Evan Woodley +6 more
doaj +1 more source
Les sphingolipides : vecteurs d’agents pathogènes et cause de maladies génétiques [PDF]
, 2006 Les sphingolipides (SPL) sont des molécules ubiquitaires indispensables au maintien et au développement des organismes vivants. Ils ne sont pas répartis uniformément le long de la membrane mais regroupés sous forme de microdomaines lipidiques appelés ...
Fasano, Caroline +3 more
core +1 more source
Frontiers in Molecular Neuroscience, 2021 In recent years, gene therapy has been raising hopes toward viable treatment strategies for rare genetic diseases for which there has been almost exclusively supportive treatment. We here review this progress at the pre-clinical and clinical trial levels
Thomas Leth Jensen +2 more
doaj +1 more source
Sphingolipidoses and Retinal Involvement: A Comprehensive Review
Applied SciencesSphingolipidoses are a class of inherited lysosomal storage diseases, characterized by enzymatic deficiencies that impair sphingolipid degradation. This enzymatic malfunction results in the pathological accumulation of sphingolipids within lysosomes ...
Chiara Carrozzi +6 more
doaj +1 more source
Achados de imagem na doença de Tay-Sachs: um relato de caso
Revista de Medicina da UFC, 2018 Objetivos: Revisar os achados de imagem característicos na doença de Tay-Sachs, um distúrbio autossômico recessivo raro. Metodologia: Relato de caso de um paciente do sexo masculino, de 1 ano e 6 meses de idade, com atraso no desenvolvimento ...
Suyane Benevides Franco +4 more
doaj +1 more source
Quality Control Gone Wrong: Mitochondria, Lysosomal Storage Disorders and Neurodegeneration. [PDF]
, 2013 The eukaryotic cell possesses specialized pathways to turnover and degrade redundant proteins and organelles. Each pathway is unique and responsible for degradation of distinctive cytosolic material.
Duchen, MR, Osellame, LD
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From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis [PDF]
, 2023 On February 23rd 1936, a boy-child (“Kn”) died in an asylum near Munich after years of severe congenital dis-ease, which had profoundly impaired his development leading to inability to walk, talk and see as well as to severe epilepsy.
Albers, Anne +4 more
core +2 more sources
GM1 and GM2 gangliosides: recent developments
Biomolecular Concepts, 2014 GM1 and GM2 gangliosides are important components of the cell membrane and play an integral role in cell signaling and metabolism. In this conceptual overview, we discuss recent developments in our understanding of the basic biological functions of GM1 ...
Bisel Blaine +2 more
doaj +1 more source
The Virginia Sickle Cell Anemia Awareness Program: Education, Screening, and Counseling [PDF]
, 1977 In 1968, a program of screening for sickle trait carriers was begun as part of the work of the Hematology Division, Department of Medicine, at the Medical College of Virginia.
Cooper, Florence N., Scott, Robert B.
core +1 more source