Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jesus A. Tintos-Hernandez"'
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
Publikováno v:
Brain Communications
Biallelic variants in the TBCK gene cause intellectual disability with remarkable clinical variability, ranging from static encephalopathy to progressive neurodegeneration (TBCK-Encephaloneuronopathy). The biological factors underlying variable disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fd1d9939452c910a8d8808827a45683
https://doi.org/10.1093/braincomms/fcab215
https://doi.org/10.1093/braincomms/fcab215
Biallelic variants in TBC1-domain containing kinase (TBCK) cause intellectual disability in children. It remains unclear how variants in TBCK lead to a neurodevelopmental disorder and what biological factors modulate the variability of clinical sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a5f3db253ae422ca08f6ef90b85b208
https://doi.org/10.1101/2020.05.25.114306
https://doi.org/10.1101/2020.05.25.114306
Autor:
Douglas C. Wallace, Sudha Kilaru Kessler, Jesus A Tintos-Hernandez, Miao He, Kierstin Keller, Carsten G. Bönnemann, Xilma R. Ortiz-Gonzalez, Sabrina W. Yum, A. Reghan Foley, Diana Bharucha-Goebel, Xueli Li, Peter B. Crino
Publikováno v:
Annals of Neurology. 83:153-165
Objective Autosomal recessive mutations in TBCK cause intellectual disability of variable severity. Although the physiologic function of TBCK remains unclear, loss-of-function mutations are associated with inhibition of mTORC1 signaling. As mTORC1 si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3fd089a256816986a3a18c4bdd9079e9
https://doi.org/10.1002/ana.25130
https://doi.org/10.1002/ana.25130
Autor:
Helen Jiang, Kevin A. Janssen, Caroline Perry, Patrick M. Schaefer, Prasanth Potluri, Piotr K. Kopinski, Kathryn E. Wellen, Douglas C. Wallace, Larry N. Singh, Benjamin A. Garcia, Nathaniel W. Snyder, Mary T. Doan, Sophie Trefely, Eiko Nakamaru-Ogiso, Kelly R. Karch, Itzhak Nissim, Sydney L. Campbell, Jesus A Tintos-Hernandez
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Mitochondrial DNA (mtDNA) mutations have been associated with common metabolic and degenerative disease phenotypes, implying a bioenergetic etiology for these diseases. For example, the mtDNA tRNALeu(UUR) m.3243A > G mutation manifests a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90a22bc52feb5782e4948eca2dfc7619
https://pubmed.ncbi.nlm.nih.gov/31308238
https://pubmed.ncbi.nlm.nih.gov/31308238
Autor:
Lanfranco Leo, Ian D. Krantz, Alyssa L. Gagne, Zhe Zhang, Jesus A Tintos-Hernandez, Deborah McEldrew, Xilma R. Ortiz-Gonzalez, Jason A. Mills, Pamela S. Herrera, Ramakrishnan Rajagopalan, Maninder Kaur
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-13 (2018)
Cornelia de Lange syndrome (CdLS) is a complex disorder with multiple structural and developmental defects caused by mutations in structural and regulatory proteins involved in the cohesin complex. NIPBL, a cohesin regulatory protein, has been identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7be4e6e5af4b0da7a0489ce63a2f65
https://doi.org/10.1038/s41598-018-19173-9
https://doi.org/10.1038/s41598-018-19173-9
Autor:
Jason A, Mills, Pamela S, Herrera, Maninder, Kaur, Lanfranco, Leo, Deborah, McEldrew, Jesus A, Tintos-Hernandez, Ramakrishnan, Rajagopalan, Alyssa, Gagne, Zhe, Zhang, Xilma R, Ortiz-Gonzalez, Ian D, Krantz
Publikováno v:
Scientific Reports
Cornelia de Lange syndrome (CdLS) is a complex disorder with multiple structural and developmental defects caused by mutations in structural and regulatory proteins involved in the cohesin complex. NIPBL, a cohesin regulatory protein, has been identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d0e7df22b573860c7fafd3dea0a36c31
https://pubmed.ncbi.nlm.nih.gov/29348408
https://pubmed.ncbi.nlm.nih.gov/29348408