Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0957-5
Abstract: Giant axonal neuropathy (GAN; ORPHA: 643; OMIM# 256850) is a rare, hereditary, pediatric neurodegenerative disorder associated with intracellular accumulations of intermediate filaments (IFs). GAN knockout (KO) mouse models mirror the IF dysregulation and widespread nervous… read more here.
Keywords: inclusion bodies; epithelial cells; lens epithelial; giant axonal ... See more keywords
Anesthetic Management of Children and Adolescents With Giant Axonal Neuropathy: A Large Case Series.
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DOI: 10.1213/xaa.0000000000001539
Abstract: Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the GAN gene, which encodes for gigaxonin, a protein involved in intermediate filament processing in neural cells and fibroblasts. We… read more here.
Keywords: giant axonal; axonal neuropathy; management children; anesthetic management ... See more keywords
Genetic Approaches for the Treatment of Giant Axonal Neuropathy
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm13010091
Abstract: Giant axonal neuropathy (GAN) is a pediatric, hereditary, neurodegenerative disorder that affects both the central and peripheral nervous systems. It is caused by mutations in the GAN gene, which codes for the gigaxonin protein. Gigaxonin… read more here.
Keywords: giant axonal; treatment giant; genetic approaches; axonal neuropathy ... See more keywords