Splicing mutations in the PDHA1 gene

Splicing mutations in the PDHA1 gene

Dades bibliogràfiques
Autors principals:	Ridout, C, Brown, R, Brown, G
Format:	Journal article
Publicat:	2008

Ítems similars

A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
per: Ridout, C, et al.
Publicat: (2008)

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency
per: Ridout, C, et al.
Publicat: (2008)

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
per: Ridout, C, et al.
Publicat: (2008)

ERN1 KNOCKDOWN AFFECTS THE EXPRESSION OF PDHA1, PDHB, PDHX, DLD, AND DLAT GENES AND MODIFIES THEIR HYPOXIC REGULATION
per: Y.P. KHIKHLO, et al.
Publicat: (2024-04-01)

RNF4 mediated degradation of PDHA1 promotes colorectal cancer metabolism and metastasis
per: Jierong Chen, et al.
Publicat: (2024-11-01)

Comprehensive analyses of PDHA1 that serves as a predictive biomarker for immunotherapy response in cancer
per: Langmei Deng, et al.
Publicat: (2022-08-01)

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy
per: Ke Gong, et al.
Publicat: (2021-04-01)

AMPK maintains TCA cycle through sequential phosphorylation of PDHA to promote tumor metastasis
per: Zhen Cai, et al.
Publicat: (2020-11-01)

Artificial intelligence reveals dysregulation of osteosarcoma and cuproptosis-related biomarkers, PDHA1, CDKN2A and neutrophils
per: Jie Jiang, et al.
Publicat: (2023-03-01)

PDHA1 hyperacetylation-mediated lactate overproduction promotes sepsis-induced acute kidney injury via Fis1 lactylation
per: Sheng An, et al.
Publicat: (2023-07-01)

Multi-omics Insights into PDHA1 as a Predictive Biomarker for Prognosis, Immunotherapy Efficacy, and Drug Sensitivity in Hepatocellular Carcinoma
per: Yong Pan, et al.
Publicat: (2024-11-01)

SIRT3 elicited an anti‐Warburg effect through HIF1α/PDK1/PDHA1 to inhibit cholangiocarcinoma tumorigenesis
per: Lei Xu, et al.
Publicat: (2019-05-01)

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency
per: Thi Thanh Ngan Nguyen, et al.
Publicat: (2024-12-01)

Identification of aberrant splicing events in myelodysplastic syndrome patients with splicing factor gene mutations
per: Pellagatti, A, et al.
Publicat: (2017)

Identification of immunogenic proteins and evaluation of recombinant PDHA1 and GAPDH as potential vaccine candidates against Streptococcus iniae infection in flounder (Paralichthys olivaceus).
per: Xiuzhen Sheng, et al.
Publicat: (2018-01-01)

Splice site mutations in the ATP7A gene.
per: Tina Skjørringe, et al.
Publicat: (2011-04-01)

Exosomal miR-21-5p from glioma associated mesenchymal stem cells promotes the progression and glycolysis of glioblastoma via PDHA1
per: Yanbin Zhang, et al.
Publicat: (2025-01-01)

Deep learning for alternative splicing
per: Brown, R
Publicat: (2019)

codY and pdhA Expression Is Induced in Staphylococcus epidermidis Biofilm and Planktonic Populations With Higher Proportions of Viable but Non-Culturable Cells
per: Vânia Gaio, et al.
Publicat: (2021-11-01)

Functional analysis of the GPAT4 gene mutation predicted to affect splicing
per: Sergey A. Bursakov, et al.
Publicat: (2024-12-01)

Splicing factor mutations in the myelodysplastic syndromes: target genes and therapeutic approaches
per: Armstrong, R, et al.
Publicat: (2017)

Alternative Splicing of Barley Clock Genes in Response to Low Temperature.
per: Cristiane P G Calixto, et al.
Publicat: (2016-01-01)

Adaptive mutation in influenza A virus non-structural gene is linked to host switching and induces a novel protein by alternative splicing
per: Mohammed Selman, et al.
Publicat: (2012-07-01)

An extended nomenclature for mammalian V-ATPase subunit genes and splice variants.
per: Kevin C Miranda, et al.
Publicat: (2010-03-01)

NF1 Gene Novel Splicing Mutations in a Chinese Family with Neurofibromatosis Type 1: Case Series
per: Wu T, et al.
Publicat: (2022-10-01)

Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy
per: Hind C. Zahr, et al.
Publicat: (2018-07-01)

Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
per: Sarah Snanoudj, et al.
Publicat: (2019-08-01)

Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in <it>MR </it>gene
per: Kaito Hiroshi, et al.
Publicat: (2009-11-01)

Mutations in hnRNP A1 drive neurodegeneration and alternative RNA splicing of neuronal gene targets
per: Ansalna Ansari, et al.
Publicat: (2025-03-01)

The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence
per: Afonin Kirill A, et al.
Publicat: (2008-02-01)

Partial rescue of truncating mutations in the ATRX gene through unusual intra-exonic splicing
per: Malik, N, et al.
Publicat: (2006)

Alternative Splicing of Circadian Clock Genes Correlates With Temperature in Field-Grown Sugarcane
per: Luíza L. B. Dantas, et al.
Publicat: (2019-12-01)

A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
per: Junyu Zhang, et al.
Publicat: (2013-01-01)

Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency
per: Brown, R, et al.
Publicat: (2004)

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
per: Ainhoa Martínez-Pizarro, et al.
Publicat: (2018-04-01)

Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
per: Michelle Wong-Brown, et al.
Publicat: (2022-05-01)

Report of a Novel Splicing Mutation in the Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the Mutations
per: Elinaz Akbariazar, et al.
Publicat: (2019-09-01)

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
per: Croxen, R, et al.
Publicat: (2000)

Development and Evaluation of Recombinant B-Cell Multi-Epitopes of PDHA1 and GAPDH as Subunit Vaccines against <i>Streptococcus iniae</i> Infection in Flounder (<i>Paralichthys olivaceus</i>)
per: Xiuzhen Sheng, et al.
Publicat: (2023-03-01)

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.
per: Burgess, R, et al.
Publicat: (2009)