Výsledky vyhledávání - "Jessie E. Greenslade"

ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function

Autor: Ashley Cai, Richard L.M. Faull, Maurice A. Curtis, Daniel Finley, Nicole R. Higgins, Josephine J. Wu, Emma L. Scotter, Cong Fan, Mervyn J. Monteiro, Miguel A. Prado, Christopher Shaw, Jessie E. Greenslade, Alexandra M. Whiteley, Teepu Siddique, Micaela Tatman, Birger Dieriks, Nhat T. T. Le

Publikováno v: Proceedings of the National Academy of Sciences. 117:15230-15241

Mutations in UBQLN2 cause amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other neurodegenerations. However, the mechanism by which the UBQLN2 mutations cause disease remains unclear. Alterations in proteins involved in autoph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f41f9f51298f0160dfb7a4add9eb99fc
https://doi.org/10.1073/pnas.1917371117

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ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction through loss-of-function in mitochondrial protein import

Autor: Jessie E. Greenslade, Brian M. Polster, Miguel A. Prado, Daniel Finley, Mariusz Karbowski, Nicole R. Higgins, Trong H. Phung, Mervyn J. Monteiro, Brian C. Lin

Publikováno v: Hum Mol Genet

UBQLN2 mutations cause amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD), but the pathogenic mechanisms by which they cause disease remain unclear. Proteomic profiling identified ‘mitochondrial proteins’ as comprising the lar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42d595b464bd5d1ab291b83a81c08ef0
https://pubmed.ncbi.nlm.nih.gov/33891006

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