Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy

por Tintos-Hernández, Jesus A, Santana, Adrian, Keller, Kierstin N, Ortiz-González, Xilma R
Publicado 2021

NIPBL(+/−) haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states

por Mills, Jason A., Herrera, Pamela S, Kaur, Maninder, Leo, Lanfranco, McEldrew, Deborah, Tintos-Hernandez, Jesus A, Rajagopalan, Ramakrishnan, Gagne, Alyssa, Zhang, Zhe, Ortiz-Gonzalez, Xilma R., Krantz, Ian D.
Publicado 2018

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

por Shieh, Joseph T., Tintos-Hernandez, Jesus A., Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C., Phillips, Joanna J., Alves, César A.P.F., Dmochowski, Ivan J., Ortiz-González, Xilma R.
Publicado 2023

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

por Shieh, Joseph T, Tintos-Hernández, Jesus A, Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C, Phillips, Joanna J, Alves, César A P F, Dmochowski, Ivan J, Ortiz-González, Xilma R
Publicado 2023

Regulation of nuclear epigenome by mitochondrial DNA heteroplasmy

por Kopinski, Piotr K., Janssen, Kevin A., Schaefer, Patrick M., Trefely, Sophie, Perry, Caroline E., Potluri, Prasanth, Tintos-Hernandez, Jesus A., Singh, Larry N., Karch, Kelly R., Campbell, Sydney L., Doan, Mary T., Jiang, Helen, Nissim, Itzhak, Nakamaru-Ogiso, Eiko, Wellen, Kathryn E., Snyder, Nathaniel W., Garcia, Benjamin A., Wallace, Douglas C.
Publicado 2019