Zobrazeno 1 - 10
of 134
pro vyhledávání: '"TRAPP complex"'
Publikováno v:
Microbiology Spectrum, Vol 11, Iss 3 (2023)
ABSTRACT While endocytic and secretory pathways are well-studied cellular processes in the model yeast Saccharomyces cerevisiae, they remain understudied in the opportunistic fungal pathogen Candida albicans. We previously found that null mutants of
Externí odkaz:
https://doaj.org/article/e7f3e7a223ba4c7eb2365736afd9866d
Akademický článek
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Akademický článek
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Autor:
Priyanka Ahimaz, Yufeng Sheng, Jacob J. Hagen, Wendy K. Chung, Michael Sacher, Zaheer Valivullah, Volkan Okur, Mythily Ganapathi, Miroslav P. Milev, Noraldin Al-Deri
Publikováno v:
J Med Genet
BackgroundNext-generation sequencing has facilitated the diagnosis of neurodevelopmental disorders with variable and non-specific clinical findings. Recently, a homozygous missense p.(Asp37Tyr) variant in TRAPPC2L, a core subunit of TRAPP complexes w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c96e598f2a71699777a83f839b93fe1
https://doi.org/10.1136/jmedgenet-2020-107016
https://doi.org/10.1136/jmedgenet-2020-107016
Autor:
Zhanna Lipatova, Nava Segev
Publikováno v:
FEBS Lett
The conserved Ypt/Rab GTPases regulate the different steps of all intracellular trafficking pathways. Ypt/Rabs are activated by their specific nucleotide exchangers termed GEFs, and when GTP bound, they recruit their downstream effectors, which media
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ff4e97e1c1662a25b169adb01398b3
https://doi.org/10.1002/1873-3468.13574
https://doi.org/10.1002/1873-3468.13574
Autor:
Kay Childs, Saleem Ahmed, Hussein Sheikh Ali Mohamoud, Jumana Y. Al-Aama, Musharraf Jelani, Steve Goodbourn, Jamal Nasir, Nirmal Vadgama, Mona Mohammad Almramhi, Nuha Alrayes
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
Scientific Reports
Scientific Reports
Childhood onset clinical syndromes involving intellectual disability and dysmorphic features, such as polydactyly, suggest common developmental pathways link seemingly unrelated phenotypes. We identified a consanguineous family of Saudi origin with v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b3e688faecfaa22c70a45b948225881
https://doaj.org/article/18faae44fa1d4821af5795128001f81b
https://doaj.org/article/18faae44fa1d4821af5795128001f81b
Akademický článek
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Autor:
Michael Sacher, Avraham Shaag, Michael O. Dorschner, Miroslav P. Milev, David S. Hanna, Christopher J. Hale, Ian A. Glass, Yong-Han Hank Cheng, Dan Doherty, Keshika Prematilake, Simon Edvardson, Megan E. Grout, Djenann Saint-Dic, Orly Elpeleg
Publikováno v:
The American Journal of Human Genetics. 101:291-299
Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85e5f522a128713f6cf0a9c6ec9ebff4
https://doi.org/10.1016/j.ajhg.2017.07.006
https://doi.org/10.1016/j.ajhg.2017.07.006
Autor:
Daniela Stanga, Nava Segev, John Christodoulou, Nicole J Van Bergen, Zhanna Lipatova, Michael Sacher
Publikováno v:
Autophagy
The modular complex TRAPP acts as an activator of a subgroup of Ypt/RAB GTPases. The substrate GTPases and TRAPP are conserved from yeast to human cells, required for secretion and macroautophagy/autophagy and implicated in human disease. All TRAPP c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8da843af2c73248edb3e49b58f4ea652
https://doi.org/10.1080/15548627.2020.1736873
https://doi.org/10.1080/15548627.2020.1736873
Autor:
Rakhilya Murtazina, Alper Gezdirici, Jaya Punetha, Jennifer E. Posey, Davut Pehlivan, Michael Sacher, Mary J H Willis, Nava Segev, Tadahiro Mitani, Jawid M Fatih, Jayne Antony, Yiran Guo, Chris Troedson, Zhanna Lipatova, Valeriya Gyurkovska, Nicole J Van Bergen, James R. Lupski, Felicity Collins, John Christodoulou, Noraldin Al-Deri, Pengfei Liu, Shalini N. Jhangiani, Patrick M. A. Sleiman, Jill V. Hunter, Daniela Stanga, Hakon Hakonarson, Thisara G Ranasinghe, Sean Massey, Ender Karaca, Sarah Zhao, Zeynep Coban Akdemir, Jill A. Rosenfeld, Richard A. Gibbs
Publikováno v:
Brain
The conserved transport protein particle (TRAPP) complexes regulate key trafficking events and are required for autophagy. TRAPPC4, like its yeast Trs23 orthologue, is a core component of the TRAPP complexes and one of the essential subunits for guan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26f0055a8a68fb5dea74c74d764561a8
https://europepmc.org/articles/PMC6935753/
https://europepmc.org/articles/PMC6935753/
