Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Clarissa D. Booth"'
Autor:
Tyler B. Johnson, Jon J. Brudvig, Shibi Likhite, Melissa A. Pratt, Katherine A. White, Jacob T. Cain, Clarissa D. Booth, Derek J. Timm, Samantha S. Davis, Brandon Meyerink, Ricardo Pineda, Cassandra Dennys-Rivers, Brian K. Kaspar, Kathrin Meyer, Jill M. Weimer
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
CLN3 disease, caused by biallelic mutations in the CLN3 gene, is a rare pediatric neurodegenerative disease that has no cure or disease modifying treatment. The development of effective treatments has been hindered by a lack of etiological knowledge,
Externí odkaz:
https://doaj.org/article/cb379df157064165b746745383d34428
Autor:
Brandon Meyerink, Kathrin Meyer, Logan Langin, Derek J. Timm, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha Davis, Clarissa D. Booth, Melissa A. Pratt, Jill M. Weimer, Shibi Likhite, Jon Brudvig
CLN8 disease is a rare form of neuronal ceroid lipofuscinosis caused by biallelic mutations in the CLN8 gene, which encodes a transmembrane endoplasmic reticulum protein involved in trafficking of lysosomal enzymes. CLN8 disease patients present with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2afbfed0ada49ecbd41a56da575b3fde
https://doi.org/10.1101/2020.05.05.079350
https://doi.org/10.1101/2020.05.05.079350
Autor:
Brandon Meyerink, Derek J. Timm, Melissa A. Pratt, Kathrin Meyer, Jacob T. Cain, Jill M. Weimer, Katherine A. White, Shibi Likhite, Samantha Davis, Tyler B. Johnson, Logan Langin, Clarissa D. Booth, Jon Brudvig
Publikováno v:
Mol Ther
CLN8 disease is a rare form of neuronal ceroid lipofuscinosis caused by biallelic mutations in the CLN8 gene, which encodes a transmembrane endoplasmic reticulum protein involved in trafficking of lysosomal enzymes. CLN8 disease patients present with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7b85864e17561c9a742537fa6bd48b5
https://pubmed.ncbi.nlm.nih.gov/33010819
https://pubmed.ncbi.nlm.nih.gov/33010819
Autor:
Alberto di Ronza, Pengcheng Zhang, Lakshya Bajaj, Dany Roman, Rituraj Pal, Sung Yun Jung, Jill M. Weimer, Jaiprakash Sharma, Rui Chen, Marco Sardiello, Richard N. Sifers, Randy Schekman, John R. Collette, Aiden Eblimit, Clarissa D. Booth, Kevin T. Chang
Publikováno v:
J Clin Invest
Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and transferred to the Golgi complex by interaction with the Batten disease protein CLN8 (ceroid lipofuscinosis, neuronal, 8). Here we investigated the relationship of this pathway w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a639bfd77e1431c8bb7489b13e2117
https://pubmed.ncbi.nlm.nih.gov/32597833
https://pubmed.ncbi.nlm.nih.gov/32597833