2025
SARM1 loss protects retinal ganglion cells in a mouse model of Autosomal Dominant Optic Atrophy
Ding C, Ndiaye P, Campbell S, Fry M, Gong J, Wienbar S, Gibbs W, Morquette P, Chao L, H. M, Schwarz T. SARM1 loss protects retinal ganglion cells in a mouse model of Autosomal Dominant Optic Atrophy. Journal Of Clinical Investigation 2025, 135: e191315. PMID: 40344041, PMCID: PMC12165793, DOI: 10.1172/jci191315.Peer-Reviewed Original ResearchConceptsAutosomal dominant optic atrophyRetinal ganglion cellsOptic atrophy type 1Dominant optic atrophyOptic atrophyMouse modelRGC degenerationGanglion cellsOptic nerve degenerationHereditary optic neuropathyMitochondrial intermembrane spaceRGC lossOptic neuropathyRGC functionVision lossNerve degenerationIntermembrane spaceType 1Mitochondrial fragmentationDegeneration phenotypeMitochondrial defectsTherapeutic targetMembrane dynamicsMiceTIR motif
2009
Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy
Schrijver I, Pique LM, Traynis I, Scharfe C, Sehnert AJ. Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy. Genetics In Medicine 2009, 11: 118-126. PMID: 19265752, DOI: 10.1097/gim.0b013e318190356b.Peer-Reviewed Original ResearchConceptsHereditary optic neuropathyPediatric patientsWorse clinical symptomsHigh-performance liquid chromatographyDNA testingLeber's hereditary optic neuropathyIndividual sequence changesMutation analysisNovel heteroplasmic mutationClinical diagnostic useIdiopathic cardiomyopathyRare causeClinical symptomsOptic neuropathyDefinitive diagnosisPediatric cardiomyopathyAdditional functional parametersMultisystemic diseaseCardiomyopathyPathogenic changesUncertain pathogenicityLiquid chromatographyPatientsRespiratory chain activityDiagnostic use
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