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Items: 3

Select item 77550071.

African Mitochondrial DNA Haplogroup L2 Is Associated With Slower Decline of β-cell Function and Lower Incidence of Diabetes Mellitus in Non-Hispanic, Black Women Living With Human Immunodeficiency Virus

Jing Sun, Todd T Brown, Weiqun Tong, David Samuels, Phyllis Tien, Brahim Aissani, Bradley Aouizerat, Maria Villacres, Mark H Kuniholm, Deborah Gustafson, Katherine Michel, Mardge Cohen, Michael Schneider, Adaora A Adimora, Mohammed K Ali, Hector Bolivar, Todd Hulgan

Clin Infect Dis. 2020 Oct 15; 71(8): e218–e225. Published online 2020 Jan 12. doi: 10.1093/cid/ciaa026

PMCID:: PMC7755007

Abstract Article PDF–367K

Select item 61448172.

Crystal structure of dimeric human PNPase reveals why disease-linked mutants suffer from low RNA import and degradation activities

Bagher Golzarroshan, Chia-Liang Lin, Chia-Lung Li, Wei-Zen Yang, Lee-Ya Chu, Sashank Agrawal, Hanna S Yuan

Nucleic Acids Res. 2018 Sep 19; 46(16): 8630–8640. Published online 2018 Jul 18. doi: 10.1093/nar/gky642

PMCID:: PMC6144817

Abstract Article PDF–8.5M

Select item 31928283.

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F. Cherukuri, Jamie K. Teer, Nancy F. Hansen, Pedro Cruz, James C. Mullikin for the NISC Comparative Sequencing Program, Robert W. Blakesley, Gretchen Golas, Justin Kwan, Anthony Sandler, Karin Fuentes Fajardo, Thomas Markello, Cynthia Tifft, Craig Blackstone, Elena I. Rugarli, Thomas Langer, William A. Gahl, Camilo Toro

PLoS Genet. 2011 Oct; 7(10): e1002325. Published online 2011 Oct 13. doi: 10.1371/journal.pgen.1002325