between ages 5 and 18 years). The disease is caused by mutations within the ZFYVE26 gene - also known as the SPG15 gene - and is passed down in an autosomal...
12 KB (1,302 words) - 21:02, 2 December 2023
Hereditary spastic paraplegia (redirect from Strumpell-lorrain disease)
paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity)...
36 KB (3,347 words) - 19:00, 17 April 2024
Vesicular transport adaptor protein (redirect from Adaptor disease)
either CCVs or COPII vesicles. AP-5 is associated with 2 proteins, SPG11 and SPG15, which have some structural similarity to clathrin, and may form the coat...
21 KB (2,331 words) - 09:27, 5 October 2024
of hereditary spastic paraplegia - SPG11 with the disease of the same name and ZFYVE26 with SPG15. GRCh38: Ensembl release 89: ENSG00000125843 – Ensembl...
4 KB (475 words) - 03:07, 1 December 2023
of hereditary spastic paraplegia - SPG11 with the disease of the same name and ZFYVE26 with SPG15. GnomAD reports an observed v. expected ratio of predicted...
5 KB (507 words) - 03:07, 1 December 2023