Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Madison Sangster"'
Autor:
Madison Sangster, Sanjid Shahriar, Zachary Niziolek, Maria Carla Carisi, Michael Lewandowski, Bogdan Budnik, Yulia Grishchuk
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Mucolipidosis IV (MLIV) is an ultra-rare, recessively inherited lysosomal disorder resulting from inactivating mutations in MCOLN1, the gene encoding the lysosomal cation channel TRPML1. The disease primarily affects the central nervous system (CNS)
Externí odkaz:
https://doaj.org/article/1273565b6a844f56b8aaccfa74f9fe3e
Autor:
Madison Sangster, Susan A. Slaugenhaupt, Ru Xiao, Samantha DeRosa, Sarah Wassmer, Sierra Smith, Monica Salani, Victoria Miller-Browne, Luk H. Vandenberghe, Albert L. Misko, Yulia Grishchuk
Publikováno v:
Human molecular genetics. 30(10)
Mucolipidosis IV (MLIV) is an orphan disease leading to debilitating psychomotor deficits and vision loss. It is caused by loss-of-function mutations in the MCOLN1 gene that encodes the lysosomal transient receptor potential channel mucolipin1, or TR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::722a05cde02c2e5c403b77d1be243ad5
https://pubmed.ncbi.nlm.nih.gov/33822942
https://pubmed.ncbi.nlm.nih.gov/33822942
Autor:
Luk H. Vandenberghe, Yulia Grishchuk, Samantha DeRosa, Albert L. Misko, Ru Xiao, Sierra Smith, Madison Sangster, Monica Salani, Victoria Miller-Browne, Sarah Wassmer, Susan A. Slaugenhaupt
Mucolipidosis IV (MLIV, OMIM 252650) is an orphan disease leading to debilitating psychomotor deficits and vision loss. It is caused by loss-of-function mutations in the MCOLN1 gene that encodes thethe lysosomal transient receptor potential channel m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::037e199d196a1f95f0195c2837a75bb7
https://doi.org/10.1101/2020.12.06.413740
https://doi.org/10.1101/2020.12.06.413740
