Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure. [PDF]
PLoS ONEFamilial Dysautonomia (FD) is a rare disease caused by ELP1 exon 20 skipping. Here we clarify the role of RNA Polymerase II (RNAPII) and chromatin on this splicing event.
Federico Riccardi +3 more
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Commentary: Congenital corneal anesthesia: A rare form of type-4 familial dysautonomia [PDF]
Indian Journal of Ophthalmology, 2022 Muralidhar Ramappa +4 more
doaj +2 more sources
Retrograde nerve growth factor signaling abnormalities and the pathogenesis of familial dysautonomia [PDF]
Neural Regeneration Research, 2021 Soumitra Ghosh +2 more
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A Closer Look at Familial Dysautonomia from a Social Communication Perspective: A Case Report and Review of Literature. [PDF]
Psychiatry Clin Psychopharmacol, 2022 Familial dysautonomia (Riley Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-kappa-B kinase complex-associated protein gene.
Turan B +3 more
europepmc +2 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
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Contemporary management of pain in cirrhosis: Toward precision therapy for pain
Hepatology, EarlyView., 2022 Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman +4 more
wiley +1 more source
Elp1 is required for development of visceral sensory peripheral and central circuitry
Disease Models & Mechanisms, 2022 Cardiovascular instability and a blunted respiratory drive in hypoxic conditions are hallmark features of the genetic sensory and autonomic neuropathy, familial dysautonomia (FD).
Zariah Tolman +3 more
doaj +1 more source
ATP-citrate lyase promotes axonal transport across species
Nature Communications, 2021 Microtubule tracks are important for the transport of molecules within axons. Here, the authors show that ATAT1, the enzyme responsible for acetylating a-tubulin, receives acetyl groups from ATP citrate lyase whose stability is regulated by Elongator, a ...
Aviel Even +18 more
doaj +1 more source
, 2022 R code used in "Gut microbiome dysbiosis drives metabolic dysfunction in Familial ...
Nick Pinkham
core +1 more source
Elongator promotes neuritogenesis via regulation of tau stability through acly activity
Frontiers in Cell and Developmental Biology, 2022 The six subunits (Elp1 to Elp6) Elongator complex promotes specific uridine modifications in tRNA’s wobble site. Moreover, this complex has been indirectly involved in the regulation of α-tubulin acetylation in microtubules (MTs) via the stabilization of
Michal Shilian +4 more
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