000065318 001__ 65318
000065318 005__ 20190709135640.0
000065318 0247_ $$2doi$$a10.1093/brain/awx295
000065318 0248_ $$2sideral$$a104244
000065318 037__ $$aART-2018-104244
000065318 041__ $$aeng
000065318 100__ $$aKullar, P.J.
000065318 245__ $$aHeterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family
000065318 260__ $$c2018
000065318 5060_ $$aAccess copy available to the general public$$fUnrestricted
000065318 5203_ $$aThe m.1555A>G mtDNA variant causes maternally inherited deafness, but the reasons for the highly variable clinical penetrance are not known. Exome sequencing identified a heterozygous start loss mutation in SSBP1, encoding the single stranded binding protein 1 (SSBP1), segregating with hearing loss in a multi-generational family transmitting m.1555A>G, associated with mtDNA depletion and multiple deletions in skeletal muscle. The SSBP1 mutation reduced steady state SSBP1 levels leading to a perturbation of mtDNA metabolism, likely compounding the intra-mitochondrial translation defect due to m.1555A>G in a tissue-specific manner. This family demonstrates the importance of rare trans-acting genetic nuclear modifiers in the clinical expression of mtDNA disease.
000065318 536__ $$9info:eu-repo/grantAgreement/ES/FIS/PI14-00005$$9info:eu-repo/grantAgreement/ES/FIS/PI14-00070
000065318 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000065318 590__ $$a11.814$$b2018
000065318 591__ $$aNEUROSCIENCES$$b11 / 266 = 0.041$$c2018$$dQ1$$eT1
000065318 591__ $$aCLINICAL NEUROLOGY$$b6 / 199 = 0.03$$c2018$$dQ1$$eT1
000065318 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000065318 700__ $$aGomez-Duran, A.
000065318 700__ $$aGammage, P.A.
000065318 700__ $$aGarone, C.
000065318 700__ $$aMinczuk, M.
000065318 700__ $$aGolder, Z.
000065318 700__ $$aWilson, J.
000065318 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, J.$$uUniversidad de Zaragoza
000065318 700__ $$aHäkli, S.
000065318 700__ $$aKärppä, M.
000065318 700__ $$aHorvath, R.
000065318 700__ $$aMajamaa, K.
000065318 700__ $$aChinnery, P.F.
000065318 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000065318 773__ $$g141, 1 (2018), 55-62$$pBrain$$tBrain$$x0006-8950
000065318 8564_ $$s913710$$uhttp://zaguan.unizar.es/record/65318/files/texto_completo.pdf$$yVersión publicada
000065318 8564_ $$s99929$$uhttp://zaguan.unizar.es/record/65318/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000065318 909CO $$ooai:zaguan.unizar.es:65318$$particulos$$pdriver
000065318 951__ $$a2019-07-09-12:37:56
000065318 980__ $$aARTICLE