Results 51 to 60 of about 253,124 (183)
Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia
bioRxiv, 2021 Familial Dysautonomia (FD) is a sensory and autonomic neuropathy caused by a mutation in Elongator complex protein 1 (ELP1). FD patients have small trigeminal nerves and impaired perception of facial pain and temperature.
Carrie E. Leonard +2 more
semanticscholar +1 more source
A rare case of postoperative pain in congenital analgesia: case report
Revista de Medicina da UFC, 2023 Objective: we describe a case of a patient with familial dysautonomia and postoperative pain. Methodology: clinical follow-up for 10 years in a tertiary pediatric hospital.
André Lavor Alves +4 more
doaj +1 more source
Elongator and codon bias regulate protein levels in mammalian peripheral neurons
Nature Communications, 2018 Familial dysautonomia is linked to mutations in IKBKAP, a scaffolding protein for the Elongator complex, which regulates codon-biased gene translation in yeast. Here the authors show in mammalian neurons that IKBKAP loss alters expression of codon-biased
Joy Goffena +9 more
doaj +1 more source
Severe heart disease in an unusual case of familial amyloid polyneuropathy type I
Revista Portuguesa de Cardiologia, 2013 Familial amyloid polyneuropathy type I (FAP type I) is a rare hereditary systemic amyloidosis caused by the Val30Met mutation in the transthyretin (TTR) gene. The clinical onset and spectrum are variable and depend on phenotypic heterogeneity.
Miguel Oliveira Santos, Dulce Brito
doaj +1 more source
Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway
Biology Open, 2021 Elongator dysfunction is increasingly recognized as a contributor to multiple neurodevelopmental and neurodegenerative disorders including familial dysautonomia, intellectual disability, amyotrophic lateral sclerosis, and autism spectrum disorder ...
BreAnna Cameron +9 more
doaj +1 more source
Engineered CRISPR-Base Editors as a Permanent Treatment for Familial Dysautonomia
bioRxivFamilial dysautonomia (FD) is a fatal autosomal recessive congenital neuropathy caused by a T-to-C mutation in intron 20 of the Elongator acetyltransferase complex subunit 1 (ELP1) gene, which causes tissue-specific skipping of exon 20 and reduction of ...
Shuqi Yun +8 more
semanticscholar +1 more source
Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker +9 more
wiley +1 more source
Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent [PDF]
Journal of Clinical and Diagnostic Research, 2017 Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties.
Abel Ramírez-Estudillo +4 more
doaj +1 more source
GliaFamilial dysautonomia (FD) is a rare genetic neurodevelopmental and neurodegenerative disorder. In addition to the autonomic and peripheral sensory neuropathies that challenge patient survival, one of the most debilitating symptoms affecting patients ...
Anastasia Schultz +9 more
semanticscholar +1 more source
Arthritis Care &Research, Accepted Article.Objectives Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies. To help patients and providers in the decision‐making process, we developed
Anahita Deboo +19 more
wiley +1 more source