Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Neurology. Genetics
Baviera-Muñoz, Raquel R; Carretero-Vilarroig, Lidón L; Vázquez-Costa, Juan Francisco JF; Morata-Martínez, Carlos C; Campins-Romeu, Marina M; Muelas, Nuria N; Sastre-Bataller, Isabel I; Martínez-Torres, Irene I; Pérez-García, Julia J; Sivera, Rafael R; Sevilla, Teresa T; Vilchez, Juan J JJ; Jaijo, Teresa T; Espinós, Carmen C; Millán, Jose M JM; Bataller, Luis L; Aller, Elena E
SPG7 targets the m-AAA protease complex to process MCU for uniporter assembly, Ca2+ influx, and regulation of mitochondrial permeability transition pore opening.
The Journal Of Biological Chemistry
Hurst, Stephen S; Baggett, Ariele A; Csordas, Gyorgy G; Sheu, Shey-Shing SS
SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore.
Molecular Cell
Shanmughapriya, Santhanam S; Rajan, Sudarsan S; Hoffman, Nicholas E NE; Higgins, Andrew M AM; Tomar, Dhanendra D; Nemani, Neeharika N; Hines, Kevin J KJ; Smith, Dylan J DJ; Eguchi, Akito A; Vallem, Sandhya S; Shaikh, Farah F; Cheung, Maggie M; Leonard, Nicole J NJ; Stolakis, Ryan S RS; Wolfers, Matthew P MP; Ibetti, Jessica J; Chuprun, J Kurt JK; Jog, Neelakshi R NR; Houser, Steven R SR; Koch, Walter J WJ; Elrod, John W JW; Madesh, Muniswamy M
The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.
Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Jama Neurology
Fogel, Brent L BL; Lee, Hane H; Deignan, Joshua L JL; Strom, Samuel P SP; Kantarci, Sibel S; Wang, Xizhe X; Quintero-Rivera, Fabiola F; Vilain, Eric E; Grody, Wayne W WW; Perlman, Susan S; Geschwind, Daniel H DH; Nelson, Stanley F SF
Publication Date: 2014-10
Variant appearance in text: SPG7: 1729G>A; Gly577Ser