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Wolfram syndrome: MAMs' connection?

Cell death & disease, 2018-03, Vol.9 (3), p.364-13, Article 364

2018

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Dominant optic atrophy

Orphanet journal of rare diseases, 2012-07, Vol.7 (1), p.46-46

2012

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Defective Endoplasmic Reticulum–Mitochondria Connection Is a Hallmark of Wolfram Syndrome

Contact, 2019-01, Vol.2, p.251525641984740

2019

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OPA1 functions in mitochondria and dysfunctions in optic nerve

The international journal of biochemistry & cell biology, 2009-10, Vol.41 (10), p.1866-1874

2009

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Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice

PloS one, 2014-05, Vol.9 (5), p.e97222-e97222

2014

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The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space

FEBS letters, 2002-07, Vol.523 (1), p.171-176

2002

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AIFsh, a Novel Apoptosis-inducing Factor (AIF) Pro-apoptotic Isoform with Potential Pathological Relevance in Human Cancer

The Journal of biological chemistry, 2006-03, Vol.281 (10), p.6413-6427

2006

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Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission

Brain (London, England : 1878), 2017-10, Vol.140 (10), p.2586-2596

2017

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Mutation spectrum and splicing variants in the OPA1 gene

Human genetics, 2001-12, Vol.109 (6), p.584-591

2001

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OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

Genome research, 2011-01, Vol.21 (1), p.12-20

2011

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WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity

Ophthalmology (Rochester, Minn.), 2016-09, Vol.123 (9), p.1989-1998

2016

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Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

The Journal of clinical investigation, 2020-01, Vol.130 (1), p.143-156

2020

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Mitochondrial Complex I activity signals antioxidant response through ERK5

Scientific reports, 2018-05, Vol.8 (1), p.7420-14, Article 7420

2018

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OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model

Scientific reports, 2018-02, Vol.8 (1), p.2468-6, Article 2468

2018

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Nuclear gene OPA1 , encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Nature genetics, 2000-10, Vol.26 (2), p.207-210

2000

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Inherited mitochondrial dysfunction triggered by OPA1 mutation impacts the sensory innervation fibre identity, functionality and regenerative potential in the cornea

Scientific reports, 2024-08, Vol.14 (1), p.18794-16, Article 18794

2024

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Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?

Mitochondrion, 2021-07, Vol.59, p.169-174

2021

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AAV2/9-mediated gene transfer into murine lacrimal gland leads to a long-term targeted tear film modification

Molecular therapy. Methods & clinical development, 2022-12, Vol.27, p.1-16

2022

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Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis

Journal of cellular physiology, 2007-05, Vol.211 (2), p.423-430

2007

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The human OPA1(delTTAG) mutation induces premature age-related systemic neurodegeneration in mouse

Brain (London, England : 1878), 2012, Vol.135, p.3599-3613

2012

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Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

Human molecular genetics, 2016-06, Vol.25 (12), p.2539-2551

2016

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Mitochondrial dynamics and disease, OPA1

Biochimica et biophysica acta, 2006-05, Vol.1763 (5), p.500-509

2006

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Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

Human molecular genetics, 2017-12, Vol.26 (23), p.4764-4764

2017

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Wolfram syndrome: MAMs' connection?

Dominant optic atrophy

Defective Endoplasmic Reticulum–Mitochondria Connection Is a Hallmark of Wolfram Syndrome

OPA1 functions in mitochondria and dysfunctions in optic nerve

Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice

The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space

AIFsh, a Novel Apoptosis-inducing Factor (AIF) Pro-apoptotic Isoform with Potential Pathological Relevance in Human Cancer

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission

Mutation spectrum and splicing variants in the OPA1 gene

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

Mitochondrial Complex I activity signals antioxidant response through ERK5

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model

Nuclear gene OPA1 , encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Inherited mitochondrial dysfunction triggered by OPA1 mutation impacts the sensory innervation fibre identity, functionality and regenerative potential in the cornea

Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?

AAV2/9-mediated gene transfer into murine lacrimal gland leads to a long-term targeted tear film modification

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis

The human OPA1(delTTAG) mutation induces premature age-related systemic neurodegeneration in mouse

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

Mitochondrial dynamics and disease, OPA1

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

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