Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Xilma R Ortiz-González"'
Autor:
Joseph T. Shieh, Jesus A. Tintos-Hernandez, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C. Lee, Joanna J. Phillips, César A.P.F. Alves, Ivan J. Dmochowski, Xilma R. Ortiz-González
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100236- (2023)
Summary: Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumul
Externí odkaz:
https://doaj.org/article/965a160fc4094ecfbc3483a36e5e6fc3
Autor:
Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César A P F Alves, Ivan J Dmochowski, Xilma R Ortiz-González
Ferritin, the iron storage protein, is composed of light and heavy chain subunits, encoded byFTLandFTH1, respectively. Heterozygous variants inFTLcause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA). V
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e468d10d9be433607d8768fc65e418b4
https://doi.org/10.1101/2023.01.30.23285099
https://doi.org/10.1101/2023.01.30.23285099
Autor:
Xilma R, Ortiz-González, Sriram, Venneti, Jaclyn A, Biegel, Lucy B, Rorke-Adams, Brenda E, Porter
Publikováno v:
Epilepsia. 52(9)
We report the case of a child who presented at 3 months of age with complex partial seizures, a linear facial nevus, and magnetic resonance imaging (MRI) showing delayed myelination and thickened cortex in the left temporal, parietal, and occipital r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bfe0be81a49d982cf6149b28aeb2cc3d
https://pubmed.ncbi.nlm.nih.gov/21668439
https://pubmed.ncbi.nlm.nih.gov/21668439
Autor:
Margaret A Gustafson, Elizabeth M McCormick, Lalith Perera, Matthew J Longley, Renkui Bai, Jianping Kong, Matthew Dulik, Lishuang Shen, Amy C Goldstein, Shana E McCormack, Benjamin L Laskin, Bart P Leroy, Xilma R Ortiz-Gonzalez, Meredith G Ellington, William C Copeland, Marni J Falk
Publikováno v:
PLoS ONE, Vol 14, Iss 9, p e0221829 (2019)
Mitochondrial DNA (mtDNA) genome integrity is essential for proper mitochondrial respiratory chain function to generate cellular energy. Nuclear genes encode several proteins that function at the mtDNA replication fork, including mitochondrial single
Externí odkaz:
https://doaj.org/article/63b1a4fb63464668996acd615bcb408a