Hereditary Ataxia Overview. PMID: 20301317
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. PMID: 27543974
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion. PMID: 36977595
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. PMID: 26168012
Proteomic Identification of the SLC25A46 Interactome in Transgenic Mice Expressing SLC25A46-FLAG. PMID: 34983179
Novel insights into SLC25A46-related pathologies in a genetic mouse model. PMID: 28376086
Insights into the genotype-phenotype correlation and molecular function of SLC25A46. PMID: 30178502
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. PMID: 27390132
Novel Drosophila model for mitochondrial diseases by targeting of a solute carrier protein SLC25A46. PMID: 29604258
Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice. PMID: 28934388
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. PMID: 32259769
Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria. PMID: 28057766
SLC25A46 promotes mitochondrial fission and mediates resistance to lipotoxic stress in INS-1E insulin-secreting cells. PMID: 36942724
Systemic administration of AAV-Slc25a46 mitigates mitochondrial neuropathy in Slc25a46-/- mice. PMID: 31943007
Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health. PMID: 28376083
Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder. PMID: 26951855
A Slc25a46 Mouse Model Simulating Age-Associated Motor Deficit, Redox Imbalance, and Mitochondria Dysfunction. PMID: 33277645
Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy. PMID: 36578309
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. PMID: 28558379
Reduction of Rpd3 suppresses defects in locomotive ability and neuronal morphology induced by the knockdown of Drosophila SLC25A46 via an epigenetic pathway. PMID: 31614134
Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease. PMID: 32208444
Neuron-specific knockdown of solute carrier protein SLC25A46a induces locomotive defects, an abnormal neuron terminal morphology, learning disability, and shortened lifespan. PMID: 32140609
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. PMID: 28653766
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report. PMID: 35012485
Light-activated mitochondrial fission through optogenetic control of mitochondria-lysosome contacts. PMID: 35879298
SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy. PMID: 27430653
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family. PMID: 28637197
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. PMID: 28369803
Genetic locus responsible for diabetic phenotype in the insulin hyposecretion (ihs) mouse. PMID: 32502168
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature. PMID: 29656927
Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases. PMID: 33985528
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion. PMID: 36061954
Four genetic variants interact to confer susceptibility to atopic dermatitis in Chinese Han population. PMID: 25711310
A genome-wide association study of heat stress-associated SNPs in catfish. PMID: 27476875
Molecular signature of cell cycle exit induced in human T lymphoblasts by IL-2 withdrawal. PMID: 19505301
Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. PMID: 16949250
A machine learning approach to unmask novel gene signatures and prediction of Alzheimer's disease within different brain regions. PMID: 33878365
The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan. PMID: 34624274
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. PMID: 22036096
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. PMID: 23042114
Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population. PMID: 21666691
Genetic variants predicting left ventricular hypertrophy in a diabetic population: a Go-DARTS study including meta-analysis. PMID: 23879873
P-glycoprotein (ABCB1) inhibited network of mitochondrion transport along microtubule and BMP signal-induced cell shape in chimpanzee left cerebrum by systems-theoretical analysis. PMID: 22674380
SLC-25A46 regulates mitochondrial fusion through FZO-1/Mitofusin and is., PMID:40444356
Identification of SLC25A46 interaction interfaces with mitochondrial membrane fusogens Opa1 and Mfn2., PMID:39222684
Identification of SLC25A46 interaction interfaces with mitochondrial membrane fusogens Opa1 and Mfn2., PMID:38234813
Mic19 depletion impairs endoplasmic reticulum-mitochondrial contacts and mitochondrial lipid metabolism and triggers liver disease., PMID:38168065
Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease., PMID:37776383
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion., PMID:36977595
SLC25A46 promotes mitochondrial fission and mediates resistance to lipotoxic stress in INS-1E insulin-secreting cells., PMID:36942724
Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy., PMID:36578309
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion., PMID:36061954
Light-activated mitochondrial fission through optogenetic control of mitochondria-lysosome contacts., PMID:35879298
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report., PMID:35012485
Proteomic Identification of the SLC25A46 Interactome in Transgenic Mice Expressing SLC25A46-FLAG., PMID:34983179
The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan., PMID:34624274
Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases., PMID:33985528
A machine learning approach to unmask novel gene signatures and prediction of Alzheimer's disease within different brain regions., PMID:33878365
A Slc25a46 Mouse Model Simulating Age-Associated Motor Deficit, Redox Imbalance, and Mitochondria Dysfunction., PMID:33277645
Genetic locus responsible for diabetic phenotype in the insulin hyposecretion (ihs) mouse., PMID:32502168
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy., PMID:32259769
Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease., PMID:32208444
Neuron-specific knockdown of solute carrier protein SLC25A46a induces locomotive defects, an abnormal neuron terminal morphology, learning disability, and shortened lifespan., PMID:32140609
Systemic administration of AAV-Slc25a46 mitigates mitochondrial neuropathy in Slc25a46-/- mice., PMID:31943007
Reduction of Rpd3 suppresses defects in locomotive ability and neuronal morphology induced by the knockdown of Drosophila SLC25A46 via an epigenetic pathway., PMID:31614134
Insights into the genotype-phenotype correlation and molecular function of SLC25A46., PMID:30178502
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature., PMID:29656927
Novel Drosophila model for mitochondrial diseases by targeting of a solute carrier protein SLC25A46., PMID:29604258
Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice., PMID:28934388
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I., PMID:28653766
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family., PMID:28637197
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families., PMID:28558379
Novel insights into SLC25A46-related pathologies in a genetic mouse model., PMID:28376086
Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health., PMID:28376083
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy., PMID:28369803
Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria., PMID:28057766
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia., PMID:27543974
A genome-wide association study of heat stress-associated SNPs in catfish., PMID:27476875
SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy., PMID:27430653
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome., PMID:27390132
Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder., PMID:26951855
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder., PMID:26168012
Four genetic variants interact to confer susceptibility to atopic dermatitis in Chinese Han population., PMID:25711310
Genetic variants predicting left ventricular hypertrophy in a diabetic population: a Go-DARTS study including meta-analysis., PMID:23879873
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population., PMID:23042114
P-glycoprotein (ABCB1) inhibited network of mitochondrion transport along microtubule and BMP signal-induced cell shape in chimpanzee left cerebrum by systems-theoretical analysis., PMID:22674380
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order., PMID:22036096
Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population., PMID:21666691
Molecular signature of cell cycle exit induced in human T lymphoblasts by IL-2 withdrawal., PMID:19505301
Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system., PMID:16949250
For research use only. Not for human or drug use.
