Medical Knowledge Cockpit myasthenic syndrome

SCN4A

• Hypokalemic periodic paralysis: in vitro investigation of muscle fiber membrane parameters

CHRNB1

• Physical map of 17p13 and the genes adjacent to p53

CHRNE

• Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits

RAPSN

• Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1
• Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
• Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

CHAT

• Functional identification of a vesicular acetylcholine transporter and its expression from a "cholinergic" gene locus
• Multiple mRNA species of choline acetyltransferase from rat spinal cord
• Human choline acetyltransferase mRNAs with different 5'-region produce a 69-kDa major translation product
• Novel, testis-specific mRNA transcripts encoding N-terminally truncated choline acetyltransferase
• Chat, a Cas/HEF1-associated adaptor protein that integrates multiple signaling pathways

DPAGT1

• Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design
• Update and perspectives on congenital disorders of glycosylation

CHRNA1

• Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17.
• Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis.
• The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA.

CHRND

• New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

• agrin in postsynaptic differentiation
  species not specified 3 genes

  ---