Dystonin

A plakin characterized by repeat sequences homologous to SPECTRIN and PLECTIN and C-terminal EF HAND MOTIFS. It functions as an integrator of INTERMEDIATE FILAMENTS, ACTIN and MICROTUBULES in cytoskeleton networks. It is required for anchoring intermediate filaments to the actin cytoskeleton in neural and muscle cells as well as anchoring KERATIN-containing intermediate filaments to HEMIDESMOSOMES in EPITHELIAL CELLS.

Also Known As:

Networked: 77 relevant articles (0 outcomes, 5 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Kothary, Rashmi: 17 articles (02/2020 - 08/2002)
2.	De Repentigny, Yves: 8 articles (01/2020 - 08/2003)
3.	Ferrier, Andrew: 6 articles (01/2015 - 01/2011)
4.	Lynch-Godrei, Anisha: 5 articles (02/2020 - 05/2014)
5.	Young, Kevin G: 5 articles (05/2014 - 12/2005)
6.	Takebayashi, Hirohide: 4 articles (11/2020 - 11/2014)
7.	Bhanot, Kunal: 4 articles (05/2014 - 03/2010)
8.	Ryan, Scott D: 4 articles (03/2012 - 01/2011)
9.	Horie, Masao: 3 articles (11/2020 - 11/2014)
10.	Yoshioka, Nozomu: 3 articles (11/2020 - 10/2018)

Related Diseases

1.	Dystonia (Limb Dystonia) 08/21/2008 - "The trigeminal ganglion (TG) and mesencephalic trigeminal tract nucleus (Mes5) were investigated in wild type and dystonia musculorum (dt) mice to study the effect of dystonin deficiency on primary sensory neurons in the trigeminal nervous system. " 01/01/2020 - "Dystonia musculorum (Dstdt ) is a murine disease caused by recessive mutations in the dystonin (Dst) gene. " 10/15/2018 - "Similarly, mutations in the mouse dystonin gene (Dst) result in severe sensory neuropathy, dystonia musculorum (Dstdt). " 10/01/2018 - "Dystonia musculorum (dt) mice, which have a mutation in the Dystonin (Dst) gene, are used as animal models to investigate the human disease known as hereditary sensory and autonomic neuropathy type VI. Massive neuronal cell death is observed, mainly in the peripheral nervous system (PNS) of dt mice. " 11/04/2011 - "Loss of dystonin results in neuromuscular dysfunction and early death in a mouse mutant called dystonia musculorum. "
2.	Bullous Pemphigoid (Pemphigoid) 08/01/2001 - "By immunoblot analyses of normal human epidermal extracts, the 230 kDa bullous pemphigoid antigen (BP230) is recognized by most bullous pemphigoid sera. " 01/01/1999 - "Antibody to bullous pemphigoid antigen 1 binds to the antigen at perilesional but not uninvolved skin, in localized bullous pemphigoid." 07/01/1998 - "Concerning the pathoetiology of the association of bullous pemphigoid and Shy-Drager syndrome, we discuss a sequence similarity between BPAG1 and dystonin, a candidate gene for dystonia musculorum." 01/11/2020 - "It is caused by circulating and tissue-bound autoantibodies directed against bullous pemphigoid antigen 1 or bullous pemphigoid antigen 2 or both. " 11/01/2011 - "The known antigens in BP are Bullous Pemphigoid Antigen 1 (BPAG1, also known as BP230), Bullous Pemphigoid Antigen 2 (BPAG2, also known as BP180), and subunits of human integrins α6 and β4. "
3.	Pemphigus (Pemphigus Vulgaris) 05/01/2007 - "Patients with paraneoplastic pemphigus develop characteristic IgG autoantibodies against several antigens including members of the plakin family, bullous pemphigoid antigen 1, and desmosomal proteins. " 01/01/2020 - "This study compares the diagnostic accuracy of ELISA and IIF for the detection of autoantibodies to desmoglein 1 (DSG1), desmoglein 3 (DSG3), bullous pemphigoid antigen 2 (BP180) and bullous pemphigoid antigen 1 (BP230) to support the diagnosis of pemphigus vulgaris (PV), pemphigus foliaceus (PF) and bullous pemphigoid (BP). "
4.	Breast Neoplasms (Breast Cancer) 12/27/2019 - "In this report, we demonstrate that Dystonin is a candidate tumour suppressor in breast cancer and provide an underlying molecular mechanism. " 01/14/2004 - "In this study we examined the differentially regulated gene expression by extracellular matrix (ECM) components by PCR-differential display (PCR-DD) analysis followed by cloning and FASTA homology search, and identified the mRNA species as a transcription factor SP1, breast cancer resistant protein (BCRP), dystonin, and KAP3B. "
5.	Neurodegenerative Diseases (Neurodegenerative Disease) 09/01/2016 - "Dystonia musculorum is a neurodegenerative disorder caused by a mutation in the dystonin gene. " 09/01/2016 - "In further studies, this model may provide new insights into the pathogenesis of neurodegenerative diseases and may elucidate the complex interactions of dystonin with various other cellular proteins especially in the CNS. "

Related Drugs and Biologics

1.	Proteins (Proteins, Gene)
2.	Antigens
3.	Autoantibodies
4.	Desmoglein 3
5.	Desmoglein 1
6.	Sp1 Transcription Factor
7.	Messenger RNA (mRNA)
8.	Protein Isoforms (Isoforms)
9.	Dystonin
10.	Plectin