Acute infantile liver failure due to mutations in the TRMU gene.
about
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesRMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseModification of the wobble uridine in bacterial and mitochondrial tRNAs reading NNA/NNG triplets of 2-codon boxesHuman mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAsMTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.Modify or die?--RNA modification defects in metazoansTRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesDefects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNAMtu1-Mediated Thiouridine Formation of Mitochondrial tRNAs Is Required for Mitochondrial Translation and Is Involved in Reversible Infantile Liver InjuryGastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome.The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs.A compendium of human mitochondrial gene expression machinery with links to disease.Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathytRNA modification enzymes GidA and MnmE: potential role in virulence of bacterial pathogens.Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.Functional genomic analysis of human mitochondrial RNA processing.Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.Nuclear modifier MTO2 modulates the aminoglycoside-sensitivity of mitochondrial 15S rRNA C1477G mutation in Saccharomyces cerevisiae.The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?Spectrum of combined respiratory chain defects.Mitochondrial transcript maturation and its disordersDefective Expression of the Mitochondrial-tRNA Modifying Enzyme GTPBP3 Triggers AMPK-Mediated Adaptive Responses Involving Complex I Assembly Factors, Uncoupling Protein 2, and the Mitochondrial Pyruvate Carrier.Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial diseaseMutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfismMutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome.Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.Evaluation of the child with suspected mitochondrial liver diseaseA [3Fe-4S] cluster is required for tRNA thiolation in archaea and eukaryotes.Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver FailureMutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes
P2860
Q21296841-C8B38A82-C6B8-40FA-AD74-5AEC34BCA7E3Q24315651-9187DBEC-F407-4413-B4DF-EEE68BE3F005Q26991754-F2B0728F-E08E-4BE6-91A4-B51F9998A01BQ26998594-A1D31009-73D5-4A54-A145-E744172B19ADQ27027853-777CA988-A3D6-40DF-A1F4-6816416D6B86Q27320993-250CA6AA-1C81-445B-BC6D-F9AFE323B9C5Q27930570-12FC4A0A-3775-4BF9-A0D7-87FD307FDEA0Q28087742-FC047418-F54D-485D-A1E1-82C94F2CEC7FQ28115863-AA71B7EA-D58D-4652-B62A-E7EAD95DA84CQ28117896-8633FBF5-00EB-41AE-88CD-DBC2670869F1Q28118354-DF392C38-8631-4AA2-BB5A-B29AD489AD69Q28119039-47685523-A845-4725-A2B7-FC981F7039ABQ28554428-D522E971-F4AB-4D2F-B439-F685CA763D9AQ30410996-E187E8A7-75B8-4CCF-89EA-FD14C5F72535Q30441690-4FA1169D-243A-45F3-9062-B98230D8940CQ33791275-68DA8828-B44D-4B93-BCB0-9C82B2E1AB2BQ33915896-D6FB5005-97F2-456D-9507-B03D7EF02185Q34112959-85BC5018-1D66-4BD7-B126-700D53CCFE28Q34203277-3A1AD1C5-D790-4E04-B8AF-978F9BB8577CQ34346045-63392567-5693-4579-B1D0-37A556BF4EE8Q34450113-CA01A8B2-D0B0-49D2-BADC-EF3DCA9AB7E0Q34486792-4E723EDB-4A67-40B7-8FBA-BA7109A78366Q34694743-35783167-5B15-43D8-9F84-43431B8E5BA1Q34893567-B32A1C29-FB2C-4949-8055-D8F79B2255E3Q34980882-3A23C295-CE8A-4BE2-BC1A-519B2B80173EQ35067535-CE069847-AAD6-46B3-9B2D-13F23F61A369Q35524513-28101A97-3C4A-4BE7-AF3E-E23DB4AFBFC9Q35752475-17DB79D0-6240-4AC9-AE74-6340A872E40FQ35825509-A7E47B00-F1D2-4CE9-BCDC-224A9DC059E0Q35825874-2F384D8B-D6E0-45CE-8F1C-999132C687DCQ35862423-37F66B0E-2C24-4FA1-8C4B-3B8E1E8CCDF5Q36035749-1ECA003C-3B3A-4A74-BDBC-72D144E84040Q36105008-ECD0B1DA-C5DE-4C15-9B14-DD81AEDC1CA0Q36365701-874E08A2-E5D5-49AF-8475-A9A994EABDBAQ36517059-E5DF0EDB-A8E3-47EA-BC5A-89BFC6A0970EQ36999666-C4F57324-C7CA-42E2-B16C-EBCCACEE1851Q37260504-CD723A79-A0DA-431A-9ABF-13EB1D06723AQ37417854-064F4302-BE9C-48CD-A903-7D30BC915A45Q37420517-3CDD381B-987F-422B-B070-6442CCC9C4E1Q37463296-6CE2CD5F-8E32-40A2-A76C-8A77580A6E27
P2860
Acute infantile liver failure due to mutations in the TRMU gene.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on September 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Acute infantile liver failure due to mutations in the TRMU gene.
@en
Acute infantile liver failure due to mutations in the TRMU gene.
@nl
type
label
Acute infantile liver failure due to mutations in the TRMU gene.
@en
Acute infantile liver failure due to mutations in the TRMU gene.
@nl
prefLabel
Acute infantile liver failure due to mutations in the TRMU gene.
@en
Acute infantile liver failure due to mutations in the TRMU gene.
@nl
P2093
P2860
P50
P1476
Acute infantile liver failure due to mutations in the TRMU gene
@en
P2093
Anne-Marie Mager-Heckel
Avraham Shaag
Avraham Zeharia
Daphna Marom
Hanna Mandel
Marine Beinat
Olga Karicheva
Orit Pappo
Orly Elpeleg
P2860
P304
P356
10.1016/J.AJHG.2009.08.004
P407
P577
2009-09-01T00:00:00Z