Zobrazeno 1 - 10
of 125
pro vyhledávání: '"P. A. Zwaka"'
Autor:
Yiren Qin, Carlos Godoy-Parejo, Marta Skowronska, Angela Verma, Marion Dejosez, Thomas P. Zwaka
Publikováno v:
Stem Cell Research, Vol 79, Iss , Pp 103483- (2024)
Recent studies reported that the mutation in the THAP11 gene (THAP11F80L) could be responsible for the inborn vitamin deficiency known as cobalamin disorder, by affecting the expression of the enzyme MMACHC, key in the cobalamin metabolism. However,
Externí odkaz:
https://doaj.org/article/66668b8cf6d04bc4b376ecf6ebcca826
Akademický článek
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Akademický článek
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Autor:
Marion Dejosez, Alessandra Dall’Agnese, Mahesh Ramamoorthy, Jesse Platt, Xing Yin, Megan Hogan, Ran Brosh, Abraham S. Weintraub, Denes Hnisz, Brian J. Abraham, Richard A. Young, Thomas P. Zwaka
Publikováno v:
Cell Reports, Vol 42, Iss 5, Pp 112505- (2023)
Summary: Genes that are key to cell identity are generally regulated by cell-type-specific enhancer elements bound by transcription factors, some of which facilitate looping to distant gene promoters. In contrast, genes that encode housekeeping funct
Externí odkaz:
https://doaj.org/article/8c6ebe16c9054ba39a8a57ba9441a0a9
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 6 (2021)
Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous inherited neurodegenerative disorders characterized by progressive ataxia and cerebellar degeneration. Here, we used a mouse model to test a possible connection between SCA and R
Externí odkaz:
https://doaj.org/article/a01a801280d8456cb3f27ff0d994f79a
Akademický článek
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Publikováno v:
Stem Cell Research, Vol 41, Iss , Pp - (2019)
Parkinson's disease is associated with the loss of dopaminergic neurons in the midbrain. Clinical studies investigating replacement of these neurons with in vitro-generated neurons are currently underway. However, this approach has been limited by di
Externí odkaz:
https://doaj.org/article/9cf800e55b814e00a0a386369be81f2e
Autor:
Jun Fujita, Pablo Freire, Cristian Coarfa, Ashley L. Benham, Preethi Gunaratne, Michael D. Schneider, Marion Dejosez, Thomas P. Zwaka
Publikováno v:
Cell Reports, Vol 21, Iss 6, Pp 1562-1573 (2017)
Summary: Ronin (THAP11), a DNA-binding protein that evolved from a primordial DNA transposon by molecular domestication, recognizes a hyperconserved promoter sequence to control developmentally and metabolically essential genes in pluripotent stem ce
Externí odkaz:
https://doaj.org/article/5b8baf19bb9b4b479027cec034bfbe8d
Publikováno v:
Stem Cell Research, Vol 23, Iss C, Pp 98-104 (2017)
Early mammalian embryonic cells must maintain a particularly robust DNA repair system, as mutations at this developmental point have detrimental consequences for the organism. How the repair system can be tuned to fulfill such elevated requirements i
Externí odkaz:
https://doaj.org/article/8f0d3d65fc2f46a5a957c0870b0ce81b
Autor:
Francesca Aguilo, Zuchra Zakirova, Katie Nolan, Ryan Wagner, Rajal Sharma, Megan Hogan, Chengguo Wei, Yifei Sun, Martin J. Walsh, Kevin Kelley, Weijia Zhang, Laurie J. Ozelius, Pedro Gonzalez-Alegre, Thomas P. Zwaka, Michelle E. Ehrlich
Publikováno v:
Stem Cell Reports, Vol 9, Iss 1, Pp 92-107 (2017)
THAP1 (THAP [Thanatos-associated protein] domain-containing, apoptosis-associated protein 1) is a ubiquitously expressed member of a family of transcription factors with highly conserved DNA-binding and protein-interacting regions. Mutations in THAP1
Externí odkaz:
https://doaj.org/article/79e6f55d75df4eaea7c68b590a9447e3