|
Alzheimer's Disease
|
0.260 |
AlteredExpression
|
disease |
BEFREE |
In conclusion, these results indicated that deregulation of mfn2 might be involved in mitochondrial dysfunction during the progression of AD, and its decreased expression was regulated at least in part by miR-195 in AD mice.
|
27693395 |
2016 |
|
Alzheimer's Disease
|
0.260 |
Biomarker
|
disease |
BEFREE |
To examine whether and how impaired mitochondrial fission/fusion balance causes neurodegeneration in AD, we developed a transgenic mouse model using the CAMKII promoter to knockout neuronal Mfn2 in the hippocampus and cortex, areas significantly affected in AD.
|
29391029 |
2018 |
|
Alzheimer's Disease
|
0.260 |
AlteredExpression
|
disease |
BEFREE |
HDAC2 overexpression also modulates neuronal expression of mitofusin2 (Mfn2) and mitochondrial fission factor (MFF), recapitulating the pattern of change observed in AD.
|
30028551 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here we report, for the first time, the occurrence of motor neuron disease, consistent with amyotrophic lateral sclerosis (ALS), in a 62-year-old woman affected by early-onset slowly progressive CMT2A, due to a novel MFN2 mutation.
|
20951041 |
2011 |
|
Anemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Hepcidin mRNA expression was increased in OBDM with anemia even in basal Fe concentration, and mitofusin 2 was decreased in all experimental conditions.
|
22426798 |
2012 |
|
Anosmia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Arm Pain
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Arteriosclerosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Aberrant MFN2 transcription facilitates homocysteine-induced VSMCs proliferation via the increased binding of c-Myc to DNMT1 in atherosclerosis.
|
31104361 |
2019 |
|
Arteriosclerosis Obliterans
|
0.010 |
Biomarker
|
disease |
BEFREE |
The results of the present study provide novel insight into the underlying mechanisms and roles of miR-31/MFN2 in the pathology of ASO, which may offer a potential therapeutic target for the treatment of ASO.
|
29403548 |
2018 |
|
Arthralgia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Asthenozoospermia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The expression level of mitofusin 2 in human sperm was significantly different between the normozoospermia and asthenozoospermia groups ( P < 0.05); meanwhile, the sperm of the asthenozoospermia group had a lower mitochondrial membrane potential ( P < 0.05), but the results of TUNEL assay did not show significant difference between the two groups.
|
30058380 |
2018 |
|
Atherosclerosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Aberrant MFN2 transcription facilitates homocysteine-induced VSMCs proliferation via the increased binding of c-Myc to DNMT1 in atherosclerosis.
|
31104361 |
2019 |
|
Atrophic
|
0.010 |
GeneticVariation
|
phenotype |
LHGDN |
[Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease].
|
17874344 |
2007 |
|
Atrophy of the spinal cord
|
0.010 |
Biomarker
|
disease |
BEFREE |
Hydromyelia and spinal cord atrophy support central nervous system involvement in CMT2A.
|
24957169 |
2014 |
|
Axonal degeneration/regeneration
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Axonal neuropathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our results suggest that the sharply reduced efficacy of oxidative phosphorylation in MFN2-related CMT2A may contribute to the pathophysiology of the axonal neuropathy.
|
17444508 |
2007 |
|
Axonal neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Axonal neuropathy linked to the CMT2A locus was originally associated with a mutation in the KIF1B gene.
|
16043786 |
2005 |
|
Axonal neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis aimed at detecting mutations of MFN2 could be extremely useful in mild axonal neuropathies with slow evolution and indispensable in cases of dominant inheritance or optic atrophy.
|
18996695 |
2008 |
|
Axonal neuropathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
This CMT2A cohort study will be useful for molecular diagnosis and treatment of axonal neuropathy.
|
24863639 |
2015 |
|
Axonal neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate the mode of inheritance in three individuals with severe early-onset axonal neuropathy and homozygous or compound heterozygous MFN2 mutations.
|
18458227 |
2008 |
|
Axonal neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In small kindreds, specific MFN2 mutations have been reported to associate with severity of axonal neuropathy, optic atrophy, and involvement of the central nervous system.
|
21987543 |
2011 |
|
Axonal neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
|
16437557 |
2006 |
|
Axonal neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neuropathy with variable clinical severity in a multigenerational family.
|
30642740 |
2019 |
|
Axonal neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MFN2 mutations cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however homozygosity for the p.Arg707Trp mutation was recently associated with upper body adipose overgrowth.
|
28414270 |
2017 |
|
Axonal neuropathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report on a 7-month-old white female with hypotonia, motor delay, distal weakness, and motor/sensory axonal neuropathy in which next-generation sequencing analysis identified compound heterozygous pathogenic variants (c.2054_2069_1170del and c.392A>G) in MFN2.
|
26955893 |
2016 |