Translation matters: protein synthesis defects in inherited disease (Q28239576)

The effect of genotype on the natural history of eIF2B-related leukodystrophies

21 January 2018

1 reference

Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults

21 January 2018

1 reference

Poly(A)-binding proteins: multifunctional scaffolds for the post-transcriptional control of gene expression

21 January 2018

1 reference

Mechanisms of translational control by the 3' UTR in development and differentiation

31 March 2020

1 reference

Emerging links between initiation of translation and human diseases

31 March 2020

1 reference

The implications of structured 5' untranslated regions on translation and disease

31 March 2020

1 reference

c-Myc protein synthesis is initiated from the internal ribosome entry segment during apoptosis.

31 March 2020

1 reference

C-Myc 5' untranslated region contains an internal ribosome entry segment

31 March 2020

1 reference

A single nucleotide change in the c-myc internal ribosome entry segment leads to enhanced binding of a group of protein factors

31 March 2020

1 reference

Members of the poly (rC) binding protein family stimulate the activity of the c-myc internal ribosome entry segment in vitro and in vivo

31 March 2020

1 reference

Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene

31 March 2020

1 reference

Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita

31 March 2020

1 reference

Ribosomes and marrow failure: coincidental association or molecular paradigm?

31 March 2020

1 reference

Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita

31 March 2020

1 reference

Severe aplastic anemia including Fanconi's anemia and dyskeratosis congenita.

31 March 2020

1 reference

31 March 2020

Dyskeratosis congenita

1 reference

Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma

31 March 2020

1 reference

The tumor suppressor p16(INK4a) prevents cell transformation through inhibition of c-Jun phosphorylation and AP-1 activity

31 March 2020

1 reference

eIF2 and the control of cell physiology

31 March 2020

1 reference

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

31 March 2020

1 reference

31 March 2020

1 reference

Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia

31 March 2020

1 reference

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

31 March 2020

1 reference

Regulation of protein synthesis in lymphoblasts from vanishing white matter patients

31 March 2020

1 reference

Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients

31 March 2020

1 reference

The unfolded protein response in vanishing white matter disease.

31 March 2020

1 reference

Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease

31 March 2020

1 reference

Gadd153 sensitizes cells to endoplasmic reticulum stress by down-regulating Bcl2 and perturbing the cellular redox state

31 March 2020

1 reference

Defective translation initiation causes vanishing of cerebral white matter

31 March 2020

1 reference

Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis.

31 March 2020

1 reference

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

31 March 2020

1 reference

Translational control is required for the unfolded protein response and in vivo glucose homeostasis

31 March 2020

1 reference

The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas

31 March 2020

1 reference

PERK EIF2AK3 control of pancreatic beta cell differentiation and proliferation is required for postnatal glucose homeostasis.

31 March 2020

1 reference

The lethal mutation of the mouse wasted (wst) is a deletion that abolishes expression of a tissue-specific isoform of translation elongation factor 1alpha, encoded by the Eef1a2 gene

31 March 2020

1 reference

Characterization of elongation factor-1A (eEF1A-1) and eEF1A-2/S1 protein expression in normal and wasted mice

31 March 2020

1 reference

Mouse translation elongation factor eEF1A-2 interacts with Prdx-I to protect cells against apoptotic death induced by oxidative stress

31 March 2020

1 reference

Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility

31 March 2020

1 reference

Differential expression of the eukaryotic release factor 3 (eRF3/GSPT1) according to gastric cancer histological types.

31 March 2020

1 reference

Pharmacologic therapy for stop mutations: how much CFTR activity is enough?

31 March 2020

1 reference

PTC124 targets genetic disorders caused by nonsense mutations

31 March 2020

1 reference

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

31 March 2020

1 reference

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia

31 March 2020

1 reference

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

31 March 2020

1 reference

Impaired ribosome biogenesis in Diamond-Blackfan anemia

31 March 2020

1 reference

Reduced gene expression of clustered ribosomal proteins in Diamond-Blackfan anemia patients without RPS19 gene mutations

31 March 2020

1 reference

Identification of proteins of the 40 S ribosomal subunit involved in interaction with initiation factor eIF-2 in the quaternary initiation complex by means of monospecific antibodies

31 March 2020

1 reference

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast

31 March 2020

1 reference

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

31 March 2020

1 reference

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

31 March 2020

1 reference

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

31 March 2020

1 reference

Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene

31 March 2020

1 reference

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

31 March 2020

1 reference

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

31 March 2020

1 reference

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

31 March 2020

1 reference

An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model

31 March 2020

1 reference

Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration

31 March 2020

1 reference

Diseases of unstable repeat expansion: mechanisms and common principles

31 March 2020

1 reference

Functional expansion of aminoacyl-tRNA synthetases and their interacting factors: new perspectives on housekeepers

31 March 2020

1 reference

Mitochondrial DNA mutations in human disease

31 March 2020

1 reference

31 March 2020

Mitochondrial disease

1 reference

Lactic acidemia and mitochondrial disease

31 March 2020

1 reference

Central nervous system manifestations of mitochondrial disorders

31 March 2020

1 reference

31 March 2020

Mitochondrial myopathies

1 reference

Nuclear genes and mitochondrial translation: a new class of genetic disease

31 March 2020

1 reference

Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease

31 March 2020

1 reference

The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation

31 March 2020

1 reference

Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases

31 March 2020

1 reference

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients

31 March 2020

1 reference

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

31 March 2020

1 reference

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination

31 March 2020

1 reference

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

31 March 2020

1 reference

An RNA model system for investigation of pseudouridine stabilization of the codon-anticodon interaction in tRNALys, tRNAHis and tRNATyr

31 March 2020

1 reference

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

31 March 2020

1 reference

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

31 March 2020

1 reference

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

31 March 2020

1 reference

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy

31 March 2020

1 reference

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

31 March 2020

1 reference

Nuclear MRP genes and mitochondrial disease

31 March 2020

1 reference

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

31 March 2020

1 reference

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

31 March 2020

1 reference

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

31 March 2020

1 reference

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

31 March 2020

1 reference

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

31 March 2020

1 reference

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

31 March 2020

1 reference

Mitochondrial respiratory-chain diseases

31 March 2020

1 reference

Nuclear genetic defects of oxidative phosphorylation

31 March 2020

1 reference

Multiregional gene expression profiling identifies MRPS6 as a possible candidate gene for Parkinson's disease

31 March 2020

1 reference

Genetic basis of Alzheimer's dementia: role of mtDNA mutations.

31 March 2020

1 reference

The protein kinase/endoribonuclease IRE1alpha that signals the unfolded protein response has a luminal N-terminal ligand-independent dimerization domain

31 March 2020

1 reference

Coping with stress: eIF2 kinases and translational control

31 March 2020

1 reference

Regulated translation initiation controls stress-induced gene expression in mammalian cells

31 March 2020

1 reference

Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation

31 March 2020

1 reference

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

31 March 2020

1 reference

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

31 March 2020

1 reference

Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome

31 March 2020

1 reference

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

31 March 2020

1 reference

Mutations in SBDS are associated with Shwachman-Diamond syndrome

31 March 2020

1 reference

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

31 March 2020

1 reference

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

31 March 2020

1 reference

Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival

31 March 2020

1 reference

The GCN2 eIF2alpha kinase regulates fatty-acid homeostasis in the liver during deprivation of an essential amino acid.

31 March 2020

1 reference

Heme-regulated eIF2alpha kinase (HRI) is required for translational regulation and survival of erythroid precursors in iron deficiency

31 March 2020

1 reference

Elevated sensitivity to diet-induced obesity and insulin resistance in mice lacking 4E-BP1 and 4E-BP2

31 March 2020

1 reference

Control of mRNA translation preserves endoplasmic reticulum function in beta cells and maintains glucose homeostasis

31 March 2020

1 reference

Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality

31 March 2020

1 reference

Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia.

31 March 2020

1 reference

Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice.

31 March 2020

1 reference

Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes

31 March 2020

1 reference

31 March 2020

Identifiers

DOI

10.1038/NRG2142

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1003445704

0 references

Fatcat ID

release_qhszin3q7bgkvansohbqclgnnu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qhszin3q7bgkvansohbqclgnnu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

17680008

1 reference

Consolidated OpenCitations Corpus – April 2017