Results 91 to 100 of about 187,598 (208)

The Many Faces of Elongator in Neurodevelopment and Disease

Frontiers in Molecular Neuroscience, 2016
Development of the nervous system requires a variety of cellular activities, such as proliferation, migration, axonal outgrowth and guidance and synapse formation during the differentiation of neural precursors into mature neurons.
Marija Kojic, Brandon Wainwright
doaj   +1 more source

Clinical Neuro-ophthalmic Findings in Familial Dysautonomia

, 2012
To define the clinical neuro-ophthalmic abnormalities of patients with familial dysautonomia (FD). Sixteen patients (32 eyes) with the clinical and molecular diagnoses of FD underwent thorough neuro-ophthalmic clinical evaluation.
Felicia B. Axelrod, Floyd Warren, Hedges, 3rd, Thomas R, Mendoza-Santiesteban, Carlos E, Thomas R. Hedges, Lucy Norcliffe-Kaufmann, Warren, Floyd, Shantan Reddy, Horacio Kaufmann, Axelrod, Felicia B, Reddy, Shantan, Carlos E. Mendoza-Santiesteban, Norcliffe-Kaufmann, Lucy, Kaufmann, Horacio   +13 more
core   +1 more source

Human‐derived cardiac‐neural microtissues reveal catecholaminergic polymorphic ventricular tachycardia is also a disease of the sympathetic neuron

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic diagram illustrating the proposed pathway in which regulatory defects might occur in sympathetic neurons derived from hiPSC in catecholaminergic polymorphic ventricular tachycardia (CPVT). Specifically, enhanced calcium transients appeared to derive from three sources: enhanced membrane excitability (due to loss of ...
Ni Li, Chenchen Zhang, Mengying Xu, YoonYoung Choi, Davi Sidarta‐Oliveira, Ruirui Dong, Xinyu Hu, Enrique M. Toledo, Cesar A. Prada‐Medina, Finbar Argus, Kun Liu, Mingyu Li, Linna Zhou, Hagan Bayley, Corey Smith, Chris Denning, Ana I. Domingos, Guoliang Hao, Dan Li, David J. Paterson   +19 more
wiley   +1 more source

Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia

Disease Models & 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 ...
Yumi Ueki, Veronika Shchepetkina, Frances Lefcort   +2 more
doaj   +1 more source

Familial Dysautonomia [PDF]

BMJ, 1965
Y R, AHUJA, H, FUDENBERG
openaire   +2 more sources

Cross‐Sectional Associations Between Gut Microbiota and Neuroimaging Changes in Post‐COVID‐19 Condition

Comprehensive Physiology, Volume 16, Issue 5, October 2026.
In patients with post‐COVID‐19 condition, a significant shift in gut microbiota composition can be observed, marked by a decrease in butyrate‐producing taxa. Relevant taxa correlate with clinical symptoms, structural and functional brain changes, which suggests potential therapeutic targets and highlight the need for further investigation in their ...
Sophie Wetz, Ravi Dadsena, Nicole Treichel, Ana S. Costa, Anna Hofmann, Sandro Romanzetti, Thomas Clavel, Kathrin Reetz, Julia Walders   +8 more
wiley   +1 more source

Early‐Onset Wild‐Type Transthyretin Amyloidosis Polyneuropathy

Muscle &Nerve, EarlyView.
Chafic Karam, Kaylee Baker, Sami Khella, Brian Drachman, Pranav Chandrashekar, MacLean Nasrallah, Shunsuke Koga, Janice Pieretti   +7 more
wiley   +1 more source

A new model of care for familial hypercholesterolaemia: What is the role of cardiology?

, 2012
Familial hypercholesterolaemia (FH) is a co-dominantly inherited disorder that causes marked elevation in plasma cholesterol and premature coronary heart disease.
Clifton, P., Watts, G., van Bockxmeer, Frank M, Clifton, Peter M., Sullivan, David R, George, Peter M, Australasia Network Consensus Group (Aust, Familial Hypercholesterolaemia, Poplawski, N., Bishop, W., Semsarian, Christopher, Tonkin, Andrew, Semsarian, C., O'Brien, Richard C, O'Brien, R., Hamilton-Craig, I., Sullivan, D., van Bockxmeer, F., van Bockxmeer, Frank M., Tonkin, A., Hamilton-Craig, Ian, Clifton, Peter M, Watts, Gerald F, O'Brien, Richard C., Bishop, Warrick, Poplawski, Nicola, George, Peter M., George, P., Watts, Gerald F., Sullivan, David R.   +28 more
core   +1 more source

The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation.

PLoS Genetics, 2010
Although acetylated alpha-tubulin is known to be a marker of stable microtubules in neurons, precise factors that regulate alpha-tubulin acetylation are, to date, largely unknown.
Jachen A Solinger, Roberta Paolinelli, Holger Klöss, Francesco Berlanda Scorza, Stefano Marchesi, Ursula Sauder, Dai Mitsushima, Fabrizio Capuani, Stephen R Stürzenbaum, Giuseppe Cassata   +9 more
doaj   +1 more source

Cytokine‐Driven Hyperinflammation in Long COVID: Mechanisms, Biomarkers, Complement Dysregulation, and Emerging Immunotherapies—A Narrative Review

Health Science Reports, Volume 9, Issue 9, September 2026.
ABSTRACT Background and Aims Long COVID, also known as post‐acute sequelae of SARS‐CoV‐2 infection (PASC), is a multisystem condition characterized by persistent symptoms that continue beyond the acute phase of infection. Growing evidence indicates that sustained immune dysregulation involving cytokine‐mediated inflammation, complement activation ...
Emmanuel Ifeanyi Obeagu
wiley   +1 more source