Ikbkap/Elp1 Deficiency Causes Male Infertility by Disrupting Meiotic Progression [PDF]
PLoS Genetics, 2013 Mouse Ikbkap gene encodes IKAP--one of the core subunits of Elongator--and is thought to be involved in transcription. However, the biological function of IKAP, particularly within the context of an animal model, remains poorly characterized.
Pal Falnes, Li Shen
exaly +8 more sources
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia [PDF]
Nature Communications, 2021 Familial dysautonomia is caused by splicing mutation of IKBKAP gene, which induces skipping of exon 20 and subsequent functional loss. Here, the authors report that a synthetic splice modulator RECTAS ameliorates pathogenic exon 20 skipping and shows ...
Masahiko Ajiro +12 more
doaj +6 more sources
Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia [PDF]
Neurobiology of Disease, 2017 FD is a rare neurodegenerative disorder caused by a mutation of the IKBKAP gene, which induces low expression levels of the Elongator subunit IKAP/hELP1 protein.
El Cherif Ibrahim
exaly +7 more sources
Deletion of Exon 20 of the Familial Dysautonomia Gene Ikbkap in Mice Causes Developmental Delay, Cardiovascular Defects, and Early Embryonic Lethality [PDF]
PLoS ONE, 2011 Familial Dysautonomia (FD) is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population, and leads to death before the age of 40.
Junming Yue +2 more
exaly +6 more sources
DMM Disease Models and Mechanisms, 2018 Familial dysautonomia (FD) is an autosomal recessive disorder marked by developmental and progressive neuropathies. It is caused by an intronic point-mutation in the IKBKAP/ELP1 gene, which encodes the inhibitor of κB kinase complex-associated protein ...
Frances Lefcort +2 more
exaly +4 more sources
Author Correction: Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia [PDF]
Nature Communications, 2021 Masahiko Ajiro +12 more
doaj +4 more sources
Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation. [PDF]
PLoS ONE, 2015 A splicing mutation in the IKBKAP gene causes Familial Dysautonomia (FD), affecting the IKAP protein expression levels and proper development and function of the peripheral nervous system (PNS).
Sharon Lefler +14 more
doaj +2 more sources
Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia. [PDF]
PLoS ONE, 2010 BACKGROUND: Familial dysautonomia (FD) is a hereditary neuropathy caused by mutations in the IKBKAP gene, the most common of which results in variable tissue-specific mRNA splicing with skipping of exon 20.
Nathalie Boone +10 more
doaj +2 more sources
Phosphatidylserine Ameliorates Neurodegenerative Symptoms and Enhances Axonal Transport in a Mouse Model of Familial Dysautonomia. [PDF]
PLoS Genetics, 2016 Familial Dysautonomia (FD) is a neurodegenerative disease in which aberrant tissue-specific splicing of IKBKAP exon 20 leads to reduction of IKAP protein levels in neuronal tissues. Here we generated a conditional knockout (CKO) mouse in which exon 20 of
Shiran Naftelberg +12 more
doaj +1 more source
Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia. [PDF]
PLoS ONE, 2011 Familial dysautonomia (FD) is a developmental neuropathy of the sensory and autonomous nervous systems. The IKBKAP gene, encoding the IKAP/hELP1 subunit of the RNA polymerase II Elongator complex is mutated in FD patients, leading to a tissue-specific ...
Rachel Cohen-Kupiec +3 more
doaj +1 more source