Related references
Note: Only part of the references are listed.The expanding neurological phenotype of DNMIL-related disorders
Michael F. Wangler et al.
BRAIN (2018)
Expanding the histopathological spectrum of CFL2-related myopathies
F. Fattori et al.
CLINICAL GENETICS (2018)
Mitochondrial Dynamics and Proteins Related to Neurodegenerative Diseases
Athanasios Alexiou et al.
CURRENT PROTEIN & PEPTIDE SCIENCE (2018)
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
Marina Bartsakoulia et al.
HUMAN MOLECULAR GENETICS (2018)
De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus
Conor S. Ryan et al.
JOURNAL OF CHILD NEUROLOGY (2018)
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
Anna Ardissone et al.
ORPHANET JOURNAL OF RARE DISEASES (2018)
Relationship Between β-Amyloid and Mitochondrial Dynamics
Dah Ihm Kim et al.
CELLULAR AND MOLECULAR NEUROBIOLOGY (2017)
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia
Alessia Nasca et al.
HUMAN MUTATION (2017)
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
Alessia Nasca et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
The Interplay of Axonal Energy Homeostasis and Mitochondrial Trafficking and Anchoring
Zu-Hang Sheng
TRENDS IN CELL BIOLOGY (2017)
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission
Sylvie Gerber et al.
BRAIN (2017)
Mitochondrial dynamics in Parkinson's disease: a role for α-synuclein?
Victorio M. Pozo Devoto et al.
DISEASE MODELS & MECHANISMS (2017)
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
Jason R. Vanstone et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy
Jill A. Fahrner et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Postnatal Microcephaly and Pain Insensitivity Due to a De Novo Heterozygous DNM1L Mutation Causing Impaired Mitochondrial Fission and Function
Ruth Sheffer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Proliferation and fission of peroxisomes - An update
Michael Schrader et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2016)
DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst
K. Zaha et al.
CLINICAL GENETICS (2016)
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila
Yu-Hsin Chao et al.
HUMAN MOLECULAR GENETICS (2016)
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy
Alessia Nasca et al.
HUMAN MUTATION (2016)
Resistance of dynamin-related protein 1 oligomers to disassembly impairs mitophagy, resulting in myocardial inflammation and heart failure (vol 290, pg 25907, 2015)
Thomas J. Cahill et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy
Johannes Koch et al.
JOURNAL OF MEDICAL GENETICS (2016)
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L
Grace Yoon et al.
JOURNAL OF PEDIATRICS (2016)
The Mechanoenzymatic Core of Dynamin-related Protein 1 Comprises the Minimal Machinery Required for Membrane Constriction
Christopher A. Francy et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives
Giulia Stuppia et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2015)
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy
Cecilia Nolli et al.
MITOCHONDRION (2015)
Simultaneous impairment of mitochondrial fission and fusion reduces mitophagy and shortens replicative lifespan
Dominik Bernhardt et al.
SCIENTIFIC REPORTS (2015)
A dimeric equilibrium intermediate nucleates Drp1 reassembly on mitochondrial membranes for fission
Patrick J. Macdonald et al.
MOLECULAR BIOLOGY OF THE CELL (2014)
Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in mitochondrial fission
Oliver C. Loson et al.
MOLECULAR BIOLOGY OF THE CELL (2013)
Mitochondrial division ensures the survival of postmitotic neurons by suppressing oxidative damage
Yusuke Kageyama et al.
JOURNAL OF CELL BIOLOGY (2012)
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
Hanan E. Shamseldin et al.
JOURNAL OF MEDICAL GENETICS (2012)
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells
F. Invernizzi et al.
MITOCHONDRION (2012)
Mitochondrial transport in neurons: impact on synaptic homeostasis and neurodegeneration
Zu-Hang Sheng et al.
NATURE REVIEWS NEUROSCIENCE (2012)
Dominant optic atrophy
Guy Lenaers et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Mitochondrial Fission, Fusion, and Stress
Richard J. Youle et al.
SCIENCE (2012)
New molecular findings in congenital myopathies due to selenoprotein N gene mutations
R. Cagliani et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)
Multi-system neurological disease is common in patients with OPA1 mutations
P. Yu-Wai-Man et al.
BRAIN (2010)
A Lethal de Novo Mutation in the Middle Domain of the Dynamin-related GTPase Drp1 Impairs Higher Order Assembly and Mitochondrial Division
Chuang-Rung Chang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
In vivo analysis of mtDNA replication defects in yeast
Enrico Baruffini et al.
METHODS (2010)
Assaying ATP synthesis in cultured cells: A valuable tool for the diagnosis of patients with mitochondrial disorders
Teresa Rizza et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2009)
Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor
Paola Goffrini et al.
HUMAN MOLECULAR GENETICS (2009)
The dynamin-related GTPase Drp1 is required for embryonic and brain development in mice
Junko Wakabayashi et al.
JOURNAL OF CELL BIOLOGY (2009)
Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice
Naotada Ishihara et al.
NATURE CELL BIOLOGY (2009)
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
Patrizia Amati-Bonneau et al.
BRAIN (2008)
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
Claudia Zanna et al.
BRAIN (2008)
A lethal defect of mitochondrial and peroxisomal fission
Hans R. Waterham et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
The importance of dendritic mitochondria in the morphogenesis and plasticity of spines and synapses
Z Li et al.
CELL (2004)
Clinical and molecular findings in children with complex I deficiency
M Bugiani et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2004)
Mitochondria-specific function of the dynamin family protein DLP1 is mediated by its C-terminal domains
KR Pitts et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Mgm1p, a dynamin-related GTPase, is essential for fusion of the mitochondrial outer membrane
H Sesaki et al.
MOLECULAR BIOLOGY OF THE CELL (2003)
The role of dynamin-related protein 1, a mediator of mitochondrial fission, in apoptosis
S Frank et al.
DEVELOPMENTAL CELL (2001)
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
N Monnier et al.
HUMAN MOLECULAR GENETICS (2000)
Share Paper
