about
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAsMTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosomeNSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assemblyOverexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing.Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyMTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals.Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthoodMutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I DeficiencyBiallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.Mouse models for mitochondrial diseases.A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes.Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain DeficienciesMutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvementClinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsInhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis
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P50
description
researcher
@en
wetenschapper
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հետազոտող
@hy
name
Metodi D Metodiev
@ast
Metodi D Metodiev
@en
Metodi D Metodiev
@es
Metodi D Metodiev
@nl
type
label
Metodi D Metodiev
@ast
Metodi D Metodiev
@en
Metodi D Metodiev
@es
Metodi D Metodiev
@nl
prefLabel
Metodi D Metodiev
@ast
Metodi D Metodiev
@en
Metodi D Metodiev
@es
Metodi D Metodiev
@nl
P106
P31
P496
0000-0002-9596-2434