- Tytuł:
- Ion channels-related diseases.
- Autorzy:
-
Dworakowska, Beata
Dołowy, Krzysztof - Powiązania:
- https://bibliotekanauki.pl/articles/1044310.pdf
- Data publikacji:
- 2000
- Wydawca:
- Polskie Towarzystwo Biochemiczne
- Tematy:
-
nicotinic acetylcholine receptor
cGMP-gated channel
ion channels
glycine receptor
voltage-gated channels
channel-related genetic disorders - Opis:
- There are many diseases related to ion channels. Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, Brugada syndrome, malignant hyperthermia and myasthenia. Neuronal disorders, e.g., epilepsy, episodic ataxia, familial hemiplegic migraine, Lambert-Eaton myasthenic syndrome, Alzheimer's disease, Parkinson's disease, schizophrenia, hyperekplexia may result from dysfunction of voltage-gated sodium, potassium and calcium channels, or acetylcholine- and glycine-gated channels. Some kidney disorders, e.g., Bartter's syndrome, policystic kidney disease and Dent's disease, secretion disorders, e.g., hyperinsulinemic hypoglycemia of infancy and cystic fibrosis, vision disorders, e.g., congenital stationary night blindness and total colour-blindness may also be linked to mutations in ion channels.
- Źródło:
-
Acta Biochimica Polonica; 2000, 47, 3; 685-703
0001-527X - Pojawia się w:
- Acta Biochimica Polonica
- Dostawca treści:
- Biblioteka Nauki
Artykuł