Literature for peptidase homologue M16.985: mitochondrial processing peptidase subunit alpha unit 2

(Topics flags: M Mutation. To select only the references relevant to a single topic, click the link above. See explanation.)

2024
1. Bagabir,H.A., Abdulkareem,A.A., Muthaffar,O.Y., Shirah,B.H. and Naseer,M.I.
   Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia
   Pak J Med Sci40, 2243-2250. PubMed  Europe PubMed DOI
2015
2. Jobling,R.K., Assoum,M., Gakh,O., Blaser,S., Raiman,J.A., Mignot,C., Roze,E., Durr,A., Brice,A., Levy,N., Prasad,C., Paton,T., Paterson,A.D., Roslin,N.M., Marshall,C.R., Desvignes,J.P., Roeckel-Trevisiol,N., Scherer,S.W., Rouleau,G.A., Megarbane,A., Isaya,G., Delague,V. and Yoon,G.
   PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
   Brain138, 1505-1517. PubMed  Europe PubMed DOI  M