Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Samantha DeRosa"'
Autor:
Molly Mepyans, Livia Andrzejczuk, Jahree Sosa, Sierra Smith, Shawn Herron, Samantha DeRosa, Susan A. Slaugenhaupt, Albert Misko, Yulia Grishchuk, Kirill Kiselyov
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 7 (2020)
Mucolipidosis type IV (MLIV) is a lysosomal disease caused by mutations in the MCOLN1 gene that encodes the endolysosomal transient receptor potential channel mucolipin-1, or TRPML1. MLIV results in developmental delay, motor and cognitive impairment
Externí odkaz:
https://doaj.org/article/2be17794d96e4af8a4f42ce17d73fa0c
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
Autor:
Kirill Kiselyov, Shawn Herron, Yulia Grishchuk, Jahree Sosa, Sierra Smith, Molly E Mepyans, Samantha DeRosa, Albert L. Misko, Livia Andrzejczuk, Susan A. Slaugenhaupt
Publikováno v:
Disease Models & Mechanisms
article-version (VoR) Version of Record
Disease Models & Mechanisms, Vol 13, Iss 7 (2020)
article-version (VoR) Version of Record
Disease Models & Mechanisms, Vol 13, Iss 7 (2020)
Mucolipidosis type IV (MLIV) is a lysosomal disease caused by mutations in the MCOLN1 gene that encodes the endolysosomal transient receptor potential channel mucolipin-1, or TRPML1. MLIV results in developmental delay, motor and cognitive impairment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb453882f2ec04fe8225b4b108ba2037
http://europepmc.org/articles/PMC7406328
http://europepmc.org/articles/PMC7406328
Autor:
Konstantin Khrapko, Kevin Wasco, Casey Payne, Samantha DeRosa, Zoe Fleischmann, Melissa Franco, Sofia Annis
Publikováno v:
The FASEB Journal. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1e6453d10c458cad0c2307ee68813520
https://doi.org/10.1096/fasebj.2019.33.1_supplement.lb173
https://doi.org/10.1096/fasebj.2019.33.1_supplement.lb173
Autor:
Anna Scotto Rosato, Susan A. Slaugenhaupt, Sitara B. Sankar, Levi B. Wood, Laura D. Weinstock, Soo Min Cho, Ayelet Vardi, Diego L. Medina, Anthony H. Futerman, Natalia S. Ferreira, Samantha DeRosa, Dadi Gao, Yulia Grishchuk, Sierra Smith, Amanda M Furness, Molly E Mepyans, Shawn Herron
Publikováno v:
Human molecular genetics. 27(15)
Mucolipidosis IV (MLIV) is an orphan neurodevelopmental disease that causes severe neurologic dysfunction and loss of vision. Currently there is no therapy for MLIV. It is caused by loss of function of the lysosomal channel mucolipin-1, also known as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a14833052b9a6bc2eb609fd4ce6d8f1f
https://pubmed.ncbi.nlm.nih.gov/29771310
https://pubmed.ncbi.nlm.nih.gov/29771310