Tay-Sachs disease: a novel mutation from India
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-225916
Abstract: Lysosomal storage disorders or lipidoses are a wide spectrum of inherited diseases caused by deficiency of a specific lysosomal hydrolase. About 134 mutations have been described so far and this number is gradually increasing with… read more here.
Keywords: novel mutation; tay sachs; sachs disease; mutation india ... See more keywords
Newly defined peroxisomal disease with novel ACBD5 mutation
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2020-0352
Abstract: Abstract Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that… read more here.
Keywords: novel acbd5; defined peroxisomal; newly defined; acbd5 mutation ... See more keywords
Loss-of-function ferroportin disease: novel mechanistic insights and unanswered questions
Sign Up to like & getrecommendations! Published in 2018 at "Haematologica"
DOI: 10.3324/haematol.2018.203315
Abstract: Ferroportin, a 571 amino acid cation transporter encoded by the SLC40A1 gene, is the only known human cellular iron exporter and primarily expressed in the basolateral membrane of duodenal enterocytes, macrophages, and hepatocytes.[1][1],[2][2] By regulating… read more here.
Keywords: novel mechanistic; loss function; function ferroportin; ferroportin disease ... See more keywords
PPARs and Their Neuroprotective Effects in Parkinson’s Disease: A Novel Therapeutic Approach in α-Synucleinopathy?
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24043264
Abstract: Parkinson’s disease (PD) is the most common α-synucleinopathy worldwide. The pathognomonic hallmark of PD is the misfolding and propagation of the α-synuclein (α-syn) protein, observed in post-mortem histopathology. It has been hypothesized that α-synucleinopathy triggers… read more here.
Keywords: disease; ppars neuroprotective; neuroprotective effects; parkinson disease ... See more keywords