Results 41 to 50 of about 253,124 (183)

Frequency and burden of gastrointestinal symptoms in familial dysautonomia. [PDF]

Clin Auton Res, 2021
Ramprasad C, Norcliffe-Kaufmann L, Palma JA, Levy J, Zhang Y, Spalink CL, Khan A, Smukalla S, Kaufmann H, Chen LA.   +9 more
europepmc   +2 more sources

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, Neehar Parikh, Dan J. Clauw, David A. Williams, Elliot B. Tapper   +4 more
wiley   +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, Giovanni Morelli, Silvia Turchetto, Michal Shilian, Romain Le Bail, Sophie Laguesse, Nathalie Krusy, Ariel Brisker, Alexander Brandis, Shani Inbar, Alain Chariot, Frédéric Saudou, Paula Dietrich, Ioannis Dragatsis, Bert Brone, Loïc Broix, Jean-Michel Rigo, Miguel Weil, Laurent Nguyen   +18 more
doaj   +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, Marta Chaverra, Lynn George, Frances Lefcort   +3 more
doaj   +1 more source

Retrograde nerve growth factor signaling abnormalities in familial dysautonomia. [PDF]

J Clin Invest, 2020
Familial dysautonomia (FD) is the most prevalent form of hereditary sensory and autonomic neuropathy (HSAN). In FD, a germline mutation in the Elp1 gene leads to Elp1 protein decrease that causes sympathetic neuron death and sympathetic nervous system ...
Li L, Gruner K, Tourtellotte WG.
europepmc   +2 more sources

Carbidopa for Afferent Baroreflex Failure in Familial Dysautonomia: A Double-Blind Randomized Crossover Clinical Trial. [PDF]

Hypertension, 2020
Supplemental Digital Content is available in the text. Afferent lesions of the arterial baroreflex occur in familial dysautonomia. This leads to excessive blood pressure variability with falls and frequent surges that damage the organs.
Norcliffe-Kaufmann L, Palma JA, Martinez J, Kaufmann H.   +3 more
europepmc   +2 more sources

Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells. [PDF]

PLoS ONE, 2010
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from abnormal development and progressive degeneration of the sensory and autonomic nervous system.
Hadas Keren, Maya Donyo, David Zeevi, Channa Maayan, Tal Pupko, Gil Ast   +5 more
doaj   +1 more source

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

bioRxiv, 2023
Familial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation in the Elongator acetyltransferase complex subunit 1 (ELP1) gene.
Ricardo Harripaul, Elisabetta Morini, M. Salani, Emily M. Logan, Emily G. Kirchner, Jessica Bolduc, Anil Chekuri, Benjamin Currall, Rachita Yadav, Serkan Erdin, M. Talkowski, Dadi Gao, Susan A. Slaugenhaupt   +12 more
semanticscholar   +1 more source

Familial dysautonomy (Riley-Day syndrome)

Arquivos de Neuro-Psiquiatria, 1994
Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta ...
Edward R. Tonholo Silva, Setsuko Ikeda Takahashi, Lucia Yoshinaga   +2 more
doaj   +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, Aviel Even, Hila Gast, Laurent Nguyen, Miguel Weil   +4 more
doaj   +1 more source