Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Shlomit Ezer"'
Autor:
Zheng Yie Yap, Yo Han Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes A. Mayr, Matias Wagner, Hong Li, Usha Kini, Emily Davis Black, Kristin G. Monaghan, James R. Lupski, Sian Ellard, Dominik S. Westphal, Tamar Harel, Wan Hee Yoon
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
Abstract Background ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane-anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organization, and cholesterol m
Externí odkaz:
https://doaj.org/article/0d5b7ae4a6ea4c1ebee8d4fe1f9fe5f7
Autor:
Adam C. Gunning, Shlomit Ezer, Johannes A. Mayr, Ekkehard Wilichowski, Hong Li, Kristin G. Monaghan, Dominik S. Westphal, Emily Black, Yo Han Park, Kate Wilson, Sukyeong Lee, James R. Lupski, Matias Wagner, Saskia B. Wortmann, Usha Kini, Zheng Yie Yap, Tamar Harel, Lita Duraine, Wan Hee Yoon, Sian Ellard
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
Genome Med. 13:55 (2021)
Genome Medicine
Genome Med. 13:55 (2021)
Genome Medicine
BackgroundATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane-anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organization, and cholesterol metabolism.
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(9)
Infantile Krabbe disease (OMIM 245200) is a severe, fatal autosomal recessive neurodegenerative disorder that is relatively frequent in two Muslims villages within Jerusalem. After the characterization of the founder mutation, a population carrier sc
Autor:
Muhannad Daana, Vardiella Meiner, Adily Basal, Peter M. Andersen, Ann Saada, Markus Otto, Julien H Park, Shira Yanovsky-Dagan, Tamar Harel, Ulrika Nordström, Shlomit Ezer, Stefan L. Marklund, Simon Edvardson
Publikováno v:
Brain : a journal of neurology. 145(3)
Pathogenic variants in SOD1, encoding superoxide dismutase 1, are responsible for about 20% of all familial amyotrophic lateral sclerosis cases, through a gain-of-function mechanism. Recently, two reports showed that a specific homozygous SOD1 loss-o
Autor:
Michael Milyavsky, Lital Eini, Shlomit Ezer, Eran Meshorer, Ayala Gold, Rotem Hanania, Michal Goldberg, Ruth Viner, Malka Nissim-Rafinia, Keren Erez, Nasma Aqaqe
Publikováno v:
Oncogene. 38:3103-3118
The cancer stem cell (CSC) model suggests that a subpopulation of cells within the tumor, the CSCs, is responsible for cancer relapse and metastasis formation. CSCs hold unique characteristics, such as self-renewal, differentiation abilities, and res