Search Results - "Piechota, Malgorzata J."

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function by Davies, Vanessa J., Hollins, Andrew J., Piechota, Malgorzata J., Yip, Wanfen, Davies, Jennifer R., White, Kathryn E., Nicols, Phillip P., Boulton, Michael E., Votruba, Marcela

“…OPA1 is a ubiquitously expressed, nuclear dynamin-related GTPase, targeted to the inner mitochondrial membrane, which plays a role in mitochondrial fusion…”
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OPA1 Deficiency Associated with Increased Autophagy in Retinal Ganglion Cells in a Murine Model of Dominant Optic Atrophy by White, Kathryn E, Davies, Vanessa J, Hogan, Vanessa E, Piechota, Malgorzata J, Nichols, Philip P, Turnbull, Douglas M, Votruba, Marcela

“…To examine retinal ganglion cell (RGC) and axonal abnormalities in an ENU-induced mutant mouse carrying a protein-truncating nonsense mutation in OPA1…”
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Secondary mtDNA Defects Do Not Cause Optic Nerve Dysfunction in a Mouse Model of Dominant Optic Atrophy by Yu-Wai-Man, Patrick, Davies, Vanessa J, Piechota, Malgorzata J, Cree, Lynsey M, Votruba, Marcela, Chinnery, Patrick F

“…The majority of patients with autosomal dominant optic atrophy (DOA) harbor pathogenic OPA1 mutations and certain missense mutations, mostly within the GTPase…”
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Opal deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function by DAVIES, Vanessa J, HOLLINS, Andrew J, PIECHOTA, Malgorzata J, YIP, Wanfen, DAVIES, Jennifer R, WHITE, Kathryn E, NICOLS, Phillip P, BOULTON, Michael E, VOTRUBA, Marcela

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