Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI

2019 ◽  
Vol 32 (4) ◽  
Author(s):  
Anisha Lynch‐Godrei ◽  
Yves De Repentigny ◽  
Rebecca A. Yaworski ◽  
Sabrina Gagnon ◽  
James Butcher ◽  
...  
Keyword(s):  
Mouse Model ◽  
Autonomic Neuropathy ◽  
Dystonia Musculorum

scholarly journals HSAN-VI

2020 ◽  
Vol 6 (1) ◽  
pp. e389 ◽  
Author(s):  
Anisha Lynch-Godrei ◽  
Rashmi Kothary
Keyword(s):  
Mouse Model ◽  
Disease Severity ◽  
Bullous Pemphigoid ◽  
Autonomic Neuropathy ◽  
Genetic Disorder ◽  
Specific Effect ◽  
Sensory Neuropathy ◽  
Compensatory Mechanisms ◽  
Initial Characterization

Hereditary sensory and autonomic neuropathy (HSAN-VI) is a recessive genetic disorder that arises because of mutations in the human dystonin gene (DST, previously known as bullous pemphigoid antigen 1). Although initial characterization of HSAN-VI reported it as a sensory neuropathy that was lethal in infancy, we now know of a number of heterozygous mutations in DST that result in milder forms of the disease. Akin to what we observe in the mouse model dystonia musculorum (Dstdt), we believe that the heterogeneity of HSAN-VI can be attributed to a number of dystonin isoforms that the mutation affects. Lack of neuronal isoform dystonin-a2 is likely the universal determinant of HSAN-VI because all reported human cases are null for this isoform, as are all Dstdt mouse alleles. Compensatory mechanisms by intact dystonin-a isoforms also likely play a role in regulating disease severity, although we have yet to determine what specific effect dystonin-a1 and dystonin-a3 have on the pathogenesis of HSAN-VI.

Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2−/− mouse model

2021 ◽  
Vol 132 ◽  
pp. S237
Author(s):  
Rebecca Gibson ◽  
Jeong-A Lim ◽  
Leticia Flores ◽  
Su Jin Choi ◽  
Sarah Young ◽  
...  
Keyword(s):  
Mouse Model

scholarly journals Characterization of a Mouse Model for Thrombomodulin Deficiency

2001 ◽  
Vol 21 (9) ◽  
pp. 1531-1537 ◽  
Author(s):  
Hartmut Weiler ◽  
Volkhard Lindner ◽  
Bryce Kerlin ◽  
Berend H. Isermann ◽  
Sara B. Hendrickson ◽  
...  
Keyword(s):  
Mouse Model
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