Zobrazeno 1 - 10 of 55 pro vyhledávání: '"Aamir Zuberi"'
1
Akademický článek
Loss of Pex1 in Inner Ear Hair Cells Contributes to Cochlear Synaptopathy and Hearing Loss
Autor: Stephanie A. Mauriac, Thibault Peineau, Aamir Zuberi, Cathleen Lutz, Gwénaëlle S. G. Géléoc
Publikováno v: Cells, Vol 11, Iss 24, p 3982 (2022)
Peroxisome Biogenesis Disorders (PBD) and Zellweger syndrome spectrum disorders (ZSD) are rare genetic multisystem disorders that include hearing impairment and are associated with defects in peroxisome assembly, function, or both. Mutations in 13 pe
Externí odkaz: https://doaj.org/article/af6841bbc15e4c1cb23a820f7b8aea4d
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2
Akademický článek
Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation
Autor: Antonio Galeone, Joshua M Adams, Shinya Matsuda, Maximiliano F Presa, Ashutosh Pandey, Seung Yeop Han, Yuriko Tachida, Hiroto Hirayama, Thomas Vaccari, Tadashi Suzuki, Cathleen M Lutz, Markus Affolter, Aamir Zuberi, Hamed Jafar-Nejad
Publikováno v: eLife, Vol 9 (2020)
During endoplasmic reticulum-associated degradation (ERAD), the cytoplasmic enzyme N-glycanase 1 (NGLY1) is proposed to remove N-glycans from misfolded N-glycoproteins after their retrotranslocation from the ER to the cytosol. We previously reported
Externí odkaz: https://doaj.org/article/7f96a57cf41d4be982d6c1682f81ca7d
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6
A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency
Autor: Kevin A. Hope, Cathleen M. Lutz, Aylin R. Rodan, Dana M Talsness, Clement Y. Chow, Gaelle Mercenne, Raghavendran Partha, John M. Pleinis, Emily Coelho, Aamir Zuberi, Nathan L. Clark, Katie G Owings
Publikováno v: eLife, Vol 9 (2020)
eLife
N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears. To model the phenotypic variab
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9961ead57ccfe6d0cbfc2c51524c39e9
https://elifesciences.org/articles/57831
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7
Loss of Tmem106b exacerbates FTLD pathologies and causes motor deficits in progranulin‐deficient mice
Autor: Virginia Phillips, Rosa Rademakers, Aamir Zuberi, Matt Baker, John D. Fryer, Mieu Brooks, Dennis W. Dickson, Xiaolai Zhou, Ariston L. Librero, Guojun Bu, Cathleen M. Lutz, Shunsuke Koga, Tammee M. Parsons, Monica Castanedes-Casey, Aishe Kurti, Peizhou Jiang
Publikováno v: EMBO reports
EMBO Rep
Progranulin (PGRN) and transmembrane protein 106B (TMEM106B) are important lysosomal proteins implicated in frontotemporal lobar degeneration (FTLD) and other neurodegenerative disorders. Loss‐of‐function mutations in progranulin (GRN) are a comm
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b21c832099c976bfbcf6c0c33b2379c
https://doi.org/10.15252/embr.202050197
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10
A Drosophila natural variation screen identifies NKCC1 as a substrate of NGLY1 deglycosylation and a modifier of NGLY1 deficiency
Autor: Aylin R. Rodan, Raghavendran Partha, Katie G Owings, Emily Coelho, Nathan L. Clark, Cathleen M. Lutz, Aamir Zuberi, Clement Y. Chow, Gaelle Mercenne, Dana M Talsness, John M. Pleinis
N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in theNGLY1gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears. To model the phenotypic variabil
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ece188007ab0c5db7856b4541320e3c9
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Plný text Recenzováno Digitální knihovna AV ČR
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