Literature DB >> 21834052

Microcephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity.

Melissa T Carter1, Kym M Boycott.   

Abstract

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Year:  2011        PMID： 21834052     DOI： 10.1002/ajmg.a.34149

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  Mechanism of recruitment and activation of the endosome-associated deubiquitinase AMSH.

Authors:  Christopher W Davies; Lake N Paul; Chittaranjan Das
Journal:  Biochemistry       Date:  2013-10-23       Impact factor: 3.162

2.  Dynamics of an Active-Site Flap Contributes to Catalysis in a JAMM Family Metallo Deubiquitinase.

Authors:  Amy N Bueno; Rashmi K Shrestha; Judith A Ronau; Aditya Babar; Michael J Sheedlo; Julian E Fuchs; Lake N Paul; Chittaranjan Das
Journal:  Biochemistry       Date:  2015-10-06       Impact factor: 3.162

3.  Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

Authors:  Laura M McDonell; Ghayda M Mirzaa; Diana Alcantara; Jeremy Schwartzentruber; Melissa T Carter; Leo J Lee; Carol L Clericuzio; John M Graham; Deborah J Morris-Rosendahl; Tilman Polster; Gyula Acsadi; Sharron Townshend; Simon Williams; Anne Halbert; Bertrand Isidor; Albert David; Christopher D Smyser; Alex R Paciorkowski; Marcia Willing; John Woulfe; Soma Das; Chandree L Beaulieu; Janet Marcadier; Michael T Geraghty; Brendan J Frey; Jacek Majewski; Dennis E Bulman; William B Dobyns; Mark O'Driscoll; Kym M Boycott
Journal:  Nat Genet       Date:  2013-03-31       Impact factor: 38.330

4.  Insights into the mechanism of deubiquitination by JAMM deubiquitinases from cocrystal structures of the enzyme with the substrate and product.

Authors:  Rashmi K Shrestha; Judith A Ronau; Christopher W Davies; Robert G Guenette; Eric R Strieter; Lake N Paul; Chittaranjan Das
Journal:  Biochemistry       Date:  2014-05-09       Impact factor: 3.162

Review 5.  Early‑onset epilepsy and microcephaly‑capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy.

Authors:  Fangrui Wu; Ying Dai; Juan Wang; Min Cheng; Yanqin Wang; Xiujuan Li; Ping Yuan; Shuang Liao; Li Jiang; Jin Chen; Lisi Yan; Min Zhong
Journal:  Mol Med Rep       Date:  2019-10-17       Impact factor: 2.952

6.  Crystal structure of the Thr316Ala mutant of a yeast JAMM deubiquitinase: implication of active-site loop dynamics in catalysis.

Authors:  Rashmi Shrestha; Chittaranjan Das
Journal:  Acta Crystallogr F Struct Biol Commun       Date:  2021-05-24       Impact factor: 1.072
  6 in total

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