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Items: 4

1.
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient
Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, Giovanni Corsello
Ital J Pediatr. 2020; 46: 140. Published online 2020 Sep 24. doi: 10.1186/s13052-020-00903-7
PMCID:
PMC7517646
AbstractArticlePDF–2.2M
2.
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy
Ulla Najwa Abdulhag, Devorah Soiferman, Ora Schueler-Furman, Chaya Miller, Avraham Shaag, Orly Elpeleg, Simon Edvardson, Ann Saada
Eur J Hum Genet. 2015 Feb; 23(2): 159–164. Published online 2014 Apr 30. doi: 10.1038/ejhg.2014.85
PMCID:
PMC4297913
AbstractArticlePDF–914K
3.
Mss51p and Cox14p jointly regulate mitochondrial Cox1p expression in Saccharomyces cerevisiae
Antoni Barrientos, Andrea Zambrano, Alexander Tzagoloff
EMBO J. 2004 Sep 1; 23(17): 3472–3482. Published online 2004 Aug 12. doi: 10.1038/sj.emboj.7600358
PMCID:
PMC516630
AbstractArticlePDF–291K
4.
LRP130, a Pentatricopeptide Motif Protein with a Noncanonical RNA-Binding Domain, Is Bound In Vivo to Mitochondrial and Nuclear RNAs
Stavroula Mili, Serafín Piñol-Roma
Mol Cell Biol. 2003 Jul; 23(14): 4972–4982. doi: 10.1128/MCB.23.14.4972-4982.2003
PMCID:
PMC162214
AbstractArticlePDF–590K

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