Zobrazeno 1 - 9
of 9
pro vyhledávání: '"C. Alejandra Morato-Torres"'
Autor:
Luis Daniel Bernal-Conde, Verónica Peña-Martínez, C. Alejandra Morato-Torres, Rodrigo Ramos-Acevedo, Óscar Arias-Carrión, Francisco J. Padilla-Godínez, Alexa Delgado-González, Marcela Palomero-Rivero, Omar Collazo-Navarrete, Luis O. Soto-Rojas, Margarita Gómez-Chavarín, Birgitt Schüle, Magdalena Guerra-Crespo
Publikováno v:
Life, Vol 14, Iss 6, p 728 (2024)
Parkinson’s disease (PD) caused by SNCA gene triplication (3XSNCA) leads to early onset, rapid progression, and often dementia. Understanding the impact of 3XSNCA and its absence is crucial. This study investigates the differentiation of human indu
Externí odkaz:
https://doaj.org/article/ef2c2d6bc5534d988f8d38715371f75f
Autor:
Cheng Cheng, James Cleak, Lan Weiss, Heather Cater, Michelle Stewart, Sara Wells, Rod Carlo Columbres, Alyaa Shmara, C. Alejandra Morato Torres, Faria Zafar, Birgitt Schüle, Jonathan Neumann, Eli Hatchwell, Virginia Kimonis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Variants in the mitochondrial complex I assembly factor, NUBPL are associated with a rare cause of complex I deficiency mitochondrial disease. Patients affected by complex I deficiency harboring homozygous NUBPL variants typically
Externí odkaz:
https://doaj.org/article/7c848dd1a64c4810b344df2a19224ac4
Autor:
C. Alejandra Morato Torres, Faria Zafar, Yu-Chih Tsai, Jocelyn Palafox Vazquez, Michael D. Gallagher, Ian McLaughlin, Karl Hong, Jill Lai, Joyce Lee, Amanda Chirino-Perez, Angel Omar Romero-Molina, Francisco Torres, Juan Fernandez-Ruiz, Tetsuo Ashizawa, Janet Ziegle, Francisco Javier Jiménez Gil, Birgitt Schüle
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100137- (2022)
Summary: Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by an expanded pentanucleotide repeat in the ATXN10 gene. This repeat expansion, when fully penetrant, has a size of 850–4,500 repeats. It has been shown that
Externí odkaz:
https://doaj.org/article/d277d02bf6d7434f953472087dacb93d
Autor:
Faria Zafar, Vasavi Nallur Srinivasaraghavan, Max Yang Chen, C. Alejandra Morato Torres, Birgitt Schüle
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102733- (2022)
Alpha-synuclein overexpression and aggregation are critical factors in the pathogenesis of Parkinson’s disease (PD). Clinical cases with alpha-synuclein (SNCA) multiplications or deletions indicate that gene expression levels are essential for neur
Externí odkaz:
https://doaj.org/article/460e4237bc484f0993b82d999b252275
Autor:
Danuta Sastre, Faria Zafar, C. Alejandra Morato Torres, Desiree Piper, Deniz Kirik, Laurie H. Sanders, Stanley Qi, Birgitt Schüle
Publikováno v:
bioRxiv
Parkinson’s disease (PD) is one of the most common neurodegenerative diseases, but no disease modifying therapies have been successful in clinical translation presenting a major unmet medical need. A promising target is alpha-synuclein or its aggre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6037f877f518eb5bd4e743384a14e394
https://doi.org/10.1101/2023.01.24.525105
https://doi.org/10.1101/2023.01.24.525105
Autor:
Birgitt Schüle, Faria Zafar, C. Alejandra Morato Torres, Danuta Sastre, Zinah Wassouf, Tiago F. Outeiro
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 5724, p 5724 (2020)
International Journal of Molecular Sciences
International journal of molecular sciences 21(16), 5724-(2020). doi:10.3390/ijms21165724
International Journal of Molecular Sciences
International journal of molecular sciences 21(16), 5724-(2020). doi:10.3390/ijms21165724
Neurodevelopmental and late-onset neurodegenerative disorders present as separate entities that are clinically and neuropathologically quite distinct. However, recent evidence has highlighted surprising commonalities and converging features at the cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25f0ba1a2f30242f9615920c495cd97d
https://doi.org/10.20944/preprints202007.0334.v1
https://doi.org/10.20944/preprints202007.0334.v1
Akademický článek
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Autor:
Danuta Sastre, Faria Zafar, C. Alejandra Morato Torres, Desiree Piper, Deniz Kirik, Laurie H. Sanders, L. Stanley Qi, Birgitt Schüle
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract Parkinson’s disease (PD) is one of the most common neurodegenerative diseases, but no disease modifying therapies have been successful in clinical translation presenting a major unmet medical need. A promising target is alpha-synuclein or
Externí odkaz:
https://doaj.org/article/6d2236de09b34a8e9d0b88bb3b49760a
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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