Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Zheng Yie Yap"'
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
Publikováno v:
Sains Malaysiana. 50:2355-2365
Dermal fibroblasts have been used clinically to promote wound healing and to reduce wrinkles. Most of the time, fetal bovine serum (FBS) is used for the expansion of fibroblasts. In addition, chemically defined medium can also be used for fibroblast
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c34683bebef53639bde117ee26114e82
https://doi.org/10.17576/jsm-2021-5008-18
https://doi.org/10.17576/jsm-2021-5008-18
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.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95d9b9000c75b98d9625dc74a3099fa9
https://doaj.org/article/0d5b7ae4a6ea4c1ebee8d4fe1f9fe5f7
https://doaj.org/article/0d5b7ae4a6ea4c1ebee8d4fe1f9fe5f7
Autor:
Yue Si, Zheng Yie Yap, Klaudia Strucinska, Mark A. Tarnopolsky, Satoshi Matsuzaki, Sukyeong Lee, Wan Hee Yoon, Kenneth M. Humphries
Publikováno v:
J Inherit Metab Dis
2-Oxoglutarate dehydrogenase (OGDH) is a rate-limiting enzyme in the mitochondrial TCA cycle, encoded by the OGDH gene. α-Ketoglutarate dehydrogenase (OGDH) deficiency was previously reported in association with developmental delay, hypotonia, and m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::989f63a56654bc03ae0b65f7274dc50e
https://doi.org/10.1002/jimd.12248
https://doi.org/10.1002/jimd.12248
Autor:
Yvonne G. Weber, Mujaddad Ur Rehman, Massimo Zeviani, Srinitya Gannavarapu, Sirous Zeinali, Sanmati Cuddapah, Zheng Yie Yap, Sukyeong Lee, Javeria Raza Alvi, Adi Reich, Wan Hee Yoon, Isabelle Schrauwen, Tahsin Stefan Barakat, Pasquale Striano, Andrea Legati, Ingo Helbig, Sarah von Spiczak, Vincenzo Salpietro, Henry Houlden, Kolsoum Saeidi, Cholsoon Jang, Mohammad-Sadegh Fallah, Alessia Nasca, Abigail Sandoval, Elham Davoudi-Dehaghani, Karen Vargas Parra, Kshitij Mankad, Stephanie Efthymiou, Anja Wagner, Sunhee Jung, Suzanne M. Leal, Manuela Pendziwiat, Bibi Nazia Murtaza, Daniele Ghezzi, Muhammad Nadeem, Elizabeth J. Bhoj, Costanza Lamperti, Reza Maroofian, Simone Seiffert, Barbara Vona
Publikováno v:
American Journal of Human Genetics, 108(12), 2368-2384. Cell Press
Am J Hum Genet
Am J Hum Genet
The 2-oxoglutarate dehydrogenase-like (OGDHL) protein is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism. OGDHL expression is restricted mainly to the brain in humans. Here, we report nine individuals f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcf63fb5388350ffc202a476413c2a9e
https://pure.eur.nl/en/publications/320792d0-0dbd-4c19-9cf9-be5e9a1535b8
https://pure.eur.nl/en/publications/320792d0-0dbd-4c19-9cf9-be5e9a1535b8
Autor:
Emily Black, Sian Ellard, Adam C. Gunning, Johannes A. Mayr, James R. Lupski, Zheng Yie Yap, Saskia B. Wortmann, Wan Hee Yoon, Sukyoung Lee, Yo Han Park, Dominik S. Westphal, Lita Duraine, Matias Wagner, Tamar Harel, Usha Kini, Kate Wilson, Hong Li, Ekkehard Wilichowski
BackgroundThe 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 metabol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c98c2f8ae485b5e384d4e69a8554e33
https://doi.org/10.1101/2020.10.05.318519
https://doi.org/10.1101/2020.10.05.318519
Publikováno v:
Biophysical Journal. 114:365a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::996a7db6c3baa446ea12d1932c4c427f
https://doi.org/10.1016/j.bpj.2017.11.2021
https://doi.org/10.1016/j.bpj.2017.11.2021