Diseases of the neuronal system

Stable Identifier
Homo sapiens
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Diseases of the neuronal system can affect sensory cells and transmission of signals between sensory cells and sensory neurons (Martemyanov and Sampath 2017), transmission of signals across electrical and chemical synapses in the nervous system (Picconi et al. 2012, Yin et al. 2012, Kida and Kato 2015), and transmission of signals between motor neurons and muscle cells (Sine 2012, Engel et al. 2015).

We have so far annotated diseases of visual phototransduction due to retinal degeneration caused by defects in the genes involved in the retinoid cycle (Travis et al. 2007, Palczewski 2010, Fletcher et al. 2011, den Hollander et al. 2008).
Literature References
PubMed ID Title Journal Year
20435355 Retinoids for treatment of retinal diseases

Palczewski, K

Trends Pharmacol. Sci. 2010
22811427 End-plate acetylcholine receptor: structure, mechanism, pharmacology, and disease

Sine, SM

Physiol. Rev. 2012
18632300 Leber congenital amaurosis: genes, proteins and disease mechanisms

Koenekoop, RK, den Hollander, AI, Roepman, R, Cremers, FP

Prog Retin Eye Res 2008
25732153 Microendophenotypes of psychiatric disorders: phenotypes of psychiatric disorders at the level of molecular dynamics, synapses, neurons, and neural circuits

Kato, T, Kida, S

Curr. Mol. Med. 2015
28715957 The Transduction Cascade in Retinal ON-Bipolar Cells: Signal Processing and Disease

Martemyanov, KA, Sampath, AP

Annu Rev Vis Sci 2017
22351072 Synaptic dysfunction in Parkinson's disease

Piccoli, G, Picconi, B, Calabresi, P

Adv. Exp. Med. Biol. 2012
16968212 Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents

Travis, GH, Golczak, M, Moise, AR, Palczewski, K

Annu. Rev. Pharmacol. Toxicol. 2007
25792100 Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

Engel, AG, Selcen, D, Sine, SM, Shen, XM

Lancet Neurol 2015
21377628 Animal models of retinal disease

Fletcher, EL, Baird, PN, Jobling, AI, Guymer, RH, Vessey, KA, Luu, C

Prog Mol Biol Transl Sci 2011
22351070 Synaptic dysfunction in schizophrenia

Sathyamurthy, A, Mei, L, Xiong, WC, Yin, DM, Chen, YJ

Adv. Exp. Med. Biol. 2012
as an event of
Name Identifier Synonyms
nervous system disease DOID:863
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