Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues.

Dystonia musculorum mice Dystonin/BPAG1/BP230 Epidermolysis bullosa simplex Hereditary sensory and autonomic neuropathy type 6 Myopathy

Journal

Anatomical science international

ISSN: 1447-073X

Titre abrégé: Anat Sci Int

Pays: Japan

ID NLM: 101154140

Informations de publication

Date de publication:
21 Aug 2023

Historique:

received: 31 05 2023

accepted: 03 08 2023

medline: 21 8 2023

pubmed: 21 8 2023

entrez: 21 8 2023

Statut: aheadofprint

Résumé

Dystonin (DST), also known as bullous pemphigoid antigen 1 (BPAG1), encodes cytoskeletal linker proteins belonging to the plakin family. The DST gene produces several isoforms, including DST-a, DST-b, and DST-e, which are expressed in neural, muscle, and cutaneous tissues, respectively. Pathogenic DST mutations cause hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) and epidermolysis bullosa simplex (EBS); therefore, it is important to elucidate the roles of DST isoforms in multiple organs. Recently, we have used several Dst mutant mouse strains, in which the expression of Dst isoforms is disrupted in distinct patterns, to gain new insight into how DST functions in multiple tissues. This review provides an overview of the roles played by tissue-specific DST isoforms in neural, muscle, and cutaneous tissues.

Identifiants

DOI: 10.1007/s12565-023-00739-1 PMID: 37603210

pubmed: 37603210

doi: 10.1007/s12565-023-00739-1

pii: 10.1007/s12565-023-00739-1

doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

Subventions

Organisme : JSPS

ID : 20K15912

Organisme : JSPS

ID : 23K06317

Informations de copyright

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