Disease on EC 2.3.1.108 - alpha-tubulin N-acetyltransferase

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DISEASE
TITLE OF PUBLICATION
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alpha-tubulin n-acetyltransferase deficiency
Deregulated expression of pro-survival and pro-apoptotic p53-dependent genes upon Elongator deficiency in colon cancer cells.
MEC-17 Deficiency Leads to Reduced ?-Tubulin Acetylation and Impaired Migration of Cortical Neurons.
Amyotrophic Lateral Sclerosis
Animal and cellular models of familial dysautonomia.
The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation.
The Many Faces of Elongator in Neurodevelopment and Disease.
Colonic Neoplasms
Deregulated expression of pro-survival and pro-apoptotic p53-dependent genes upon Elongator deficiency in colon cancer cells.
Genetic disruption of tubulin acetyltransferase, ?TAT1, inhibits proliferation and invasion of colon cancer cells through decreases in Wnt1/?-catenin signaling.
Cystic Fibrosis
4-Phenylbutyrate stimulates Hsp70 expression through the Elp2 component of elongator and STAT-3 in cystic fibrosis epithelial cells.
Diphtheria
A versatile partner of eukaryotic protein complexes that is involved in multiple biological processes: Kti11/Dph3.
Dysautonomia, Familial
A conserved and essential basic region mediates tRNA binding to the Elp1 subunit of the Saccharomyces cerevisiae Elongator complex.
Defects in tRNA modification associated with neurological and developmental dysfunctions in Caenorhabditis elegans elongator mutants.
Elongator - an emerging role in neurological disorders.
Elongator and codon bias regulate protein levels in mammalian peripheral neurons.
Elongator complex: how many roles does it play?
Potential role of tubulin acetylation and microtubule-based protein trafficking in familial dysautonomia.
Purification and characterization of the human elongator complex.
Structural insights into the function of Elongator.
The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation.
The Familial Dysautonomia disease gene, Ikbkap/Elp1, is required in the developing and adult central nervous system.
The Many Faces of Elongator in Neurodevelopment and Disease.
Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia.
[Molecular and cellular characterization ion of IKAP protein and the Elongator complex. Implications for familial dysautonomia]
Epilepsy
Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4 (ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a Greek population.
Epilepsy, Rolandic
Animal and cellular models of familial dysautonomia.
Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4 (ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a Greek population.
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).
The Many Faces of Elongator in Neurodevelopment and Disease.
Genetic Diseases, Inborn
[Molecular and cellular characterization ion of IKAP protein and the Elongator complex. Implications for familial dysautonomia]
Hereditary Sensory and Autonomic Neuropathies
The Familial Dysautonomia disease gene, Ikbkap/Elp1, is required in the developing and adult central nervous system.
Hypersensitivity
Elongator mediates ABA responses, oxidative stress resistance and anthocyanin biosynthesis in Arabidopsis.
Intellectual Disability
Animal and cellular models of familial dysautonomia.
The Many Faces of Elongator in Neurodevelopment and Disease.
Melanoma
DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator.
Neoplasms
Elp3 drives Wnt-dependent tumor initiation and regeneration in the intestine.
Genetic disruption of tubulin acetyltransferase, ?TAT1, inhibits proliferation and invasion of colon cancer cells through decreases in Wnt1/?-catenin signaling.
Promotion of cell proliferation by the proto-oncogene DEK enhances oral squamous cell carcinogenesis through field cancerization.
Structural basis for tRNA modification by Elp3 from Dehalococcoides mccartyi.
Structures and Activities of the Elongator Complex and Its Cofactors.
Nervous System Diseases
Elongator - an emerging role in neurological disorders.
Structures and Activities of the Elongator Complex and Its Cofactors.
The Many Faces of Elongator in Neurodevelopment and Disease.
Neuroblastoma
Loss of Elp3 Impairs the Acetylation and Distribution of Connexin-43 in the Developing Cerebral Cortex.
Neurodegenerative Diseases
Elongator: an ancestral complex driving transcription and migration through protein acetylation.
Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia.
Structural basis for tRNA modification by Elp3 from Dehalococcoides mccartyi.
The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation.
The Elp2 subunit is essential for elongator complex assembly and functional regulation.
The Sirtuin 2 microtubule deacetylase is an abundant neuronal protein that accumulates in the aging CNS.
Pain
Acetylated tubulin is essential for touch sensation in mice.
Primary Dysautonomias
[Molecular and cellular characterization ion of IKAP protein and the Elongator complex. Implications for familial dysautonomia]