Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

(2020) Majida Charif et al.   Neurology-Genetics

New interfaces on MiD51 for Drp1 recruitment and regulation

(2019) Jun Ma et al.   PLoS One

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

(2019) Bastien Le Roux et al.   Orphanet Journal of Rare Diseases

Structural basis of mitochondrial receptor binding and constriction by DRP1

(2018) Raghav Kalia et al.   NATURE

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

(2018) Rahma Felhi et al.   CLINICA CHIMICA ACTA

A neurodegenerative perspective on mitochondrial optic neuropathies

(2016) Patrick Yu-Wai-Man et al.   ACTA NEUROPATHOLOGICA

Cooperative and independent roles of the Drp1 adaptors Mff, MiD49 and MiD51 in mitochondrial fission

(2016) Laura D. Osellame et al.   JOURNAL OF CELL SCIENCE

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy

(2016) Sylvie Gerber et al.   JOURNAL OF MEDICAL GENETICS

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

(2016) Johannes Koch et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial fusion/fission dynamics in neurodegeneration and neuronal plasticity

(2016) A.M. Bertholet et al.   NEUROBIOLOGY OF DISEASE

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

(2016) Bianca Hartmann et al.   eLife

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

(2015) Majida Charif et al.   Frontiers in Genetics

Improved Locus-Specific Database forOPA1Mutations Allows Inclusion of Advanced Clinical Data

(2014) Marc Ferré et al.   HUMAN MUTATION

Structural and functional analysis of MiD51, a dynamin receptor required for mitochondrial fission

(2014) Viviane Richter et al.   JOURNAL OF CELL BIOLOGY

The Mitochondrial Fission Receptor MiD51 Requires ADP as a Cofactor

(2014) Oliver C. Losón et al.   STRUCTURE

Adaptor Proteins MiD49 and MiD51 Can Act Independently of Mff and Fis1 in Drp1 Recruitment and Are Specific for Mitochondrial Fission

(2013) Catherine S. Palmer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in mitochondrial fission

(2013) Oliver C. Losón et al.   MOLECULAR BIOLOGY OF THE CELL

Interchangeable adaptors regulate mitochondrial dynamin assembly for membrane scission

(2013) S. Koirala et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

(2012) Stephan Klebe et al.   BRAIN

Dominant optic atrophy

(2012) Guy Lenaers et al.   Orphanet Journal of Rare Diseases

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

(2011) C. Rouzier et al.   BRAIN

Human MIEF1 recruits Drp1 to mitochondrial outer membranes and promotes mitochondrial fusion rather than fission

(2011) Jian Zhao et al.   EMBO JOURNAL

MiD49 and MiD51, new components of the mitochondrial fission machinery

(2011) Catherine S Palmer et al.   EMBO REPORTS

Rapid three-dimensional isotropic imaging of living cells using Bessel beam plane illumination

(2011) Thomas A Planchon et al.   NATURE METHODS

Mff is an essential factor for mitochondrial recruitment of Drp1 during mitochondrial fission in mammalian cells

(2010) Hidenori Otera et al.   JOURNAL OF CELL BIOLOGY

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS