Literature DB >> 24336790

Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.

Matthis Synofzik1, Lilian A Martinez-Carrera, Tobias Lindig, Ludger Schöls, Brunhilde Wirth.   

Abstract

Entities:  

Keywords:  Motor Neuron Disease; Neurogenetics

Mesh：

Substances：

Year:  2013        PMID： 24336790     DOI： 10.1136/jnnp-2013-306777

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  14 in total

1.  Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.

Authors:  Markus Storbeck; Beate Horsberg Eriksen; Andreas Unger; Irmgard Hölker; Ingvild Aukrust; Lilian A Martínez-Carrera; Wolfgang A Linke; Andreas Ferbert; Raoul Heller; Matthias Vorgerd; Gunnar Houge; Brunhilde Wirth
Journal:  Eur J Hum Genet       Date:  2017-06-21       Impact factor: 4.246

2.  Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Authors:  Alexander M Rossor; Emily C Oates; Hannah K Salter; Yang Liu; Sinead M Murphy; Rebecca Schule; Michael A Gonzales; Mariacristina Scoto; Rahul Phadke; Caroline A Sewry; Henry Houlden; Albena Jordanova; Iyailo Tournev; Teodora Chamova; Ivan Litvinenko; Stephan Zuchner; David N Herrmann; Julian Blake; Janet E Sowden; Gyuda Acsadi; Michael L Rodriguez; Manoj P Menezes; Nigel F Clarke; Michaela Auer Grumbach; Simon L Bullock; Francesco Muntoni; Mary M Reilly; Kathryn N North
Journal:  Brain       Date:  2015-06-10       Impact factor: 13.501

3.  Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

Authors:  Alleene V Strickland; Maria Schabhüttl; Hans Offenbacher; Matthis Synofzik; Natalie S Hauser; Michaela Brunner-Krainz; Ursula Gruber-Sedlmayr; Steven A Moore; Reinhard Windhager; Benjamin Bender; Matthew Harms; Stephan Klebe; Peter Young; Marina Kennerson; Avencia Sanchez Mejias Garcia; Michael A Gonzalez; Stephan Züchner; Rebecca Schule; Michael E Shy; Michaela Auer-Grumbach
Journal:  J Neurol       Date:  2015-06-24       Impact factor: 4.849

4.  Role of Coiled-Coil Registry Shifts in the Activation of Human Bicaudal D2 for Dynein Recruitment upon Cargo Binding.

Authors:  Crystal R Noell; Jia Ying Loh; Erik W Debler; Kyle M Loftus; Heying Cui; Blaine B Russ; Kaiqi Zhang; Puja Goyal; Sozanne R Solmaz
Journal:  J Phys Chem Lett       Date:  2019-07-22       Impact factor: 6.475

Review 5.  The Genetics of Spinal Muscular Atrophy: Progress and Challenges.

Authors:  Michelle A Farrar; Matthew C Kiernan
Journal:  Neurotherapeutics       Date:  2015-04       Impact factor: 7.620

6.  Coil-to-α-helix transition at the Nup358-BicD2 interface activates BicD2 for dynein recruitment.

Authors:  James M Gibson; Heying Cui; M Yusuf Ali; Xiaoxin Zhao; Erik W Debler; Jing Zhao; Kathleen M Trybus; Sozanne R Solmaz; Chunyu Wang
Journal:  Elife       Date:  2022-03-01       Impact factor: 8.713

7.  Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Authors:  Alexander M Rossor; Emily C Oates; Hannah K Salter; Yang Liu; Sinead M Murphy; Rebecca Schule; Michael A Gonzalez; Mariacristina Scoto; Rahul Phadke; Caroline A Sewry; Henry Houlden; Albena Jordanova; Iyailo Tournev; Teodora Chamova; Ivan Litvinenko; Stephan Zuchner; David N Herrmann; Julian Blake; Janet E Sowden; Gyuda Acsadi; Michael L Rodriguez; Manoj P Menezes; Nigel F Clarke; Michaela Auer Grumbach; Simon L Bullock; Francesco Muntoni; Mary M Reilly; Kathryn N North
Journal:  Brain       Date:  2014-12-14       Impact factor: 13.501

8.  A Quantitative Model for BicD2/Cargo Interactions.

Authors:  Crystal R Noell; Kyle M Loftus; Heying Cui; Christof Grewer; Megan Kizer; Erik W Debler; Sozanne R Solmaz
Journal:  Biochemistry       Date:  2018-11-05       Impact factor: 3.162

9.  Adapter Proteins for Opposing Motors Interact Simultaneously with Nuclear Pore Protein Nup358.

Authors:  Heying Cui; Crystal R Noell; Rachael P Behler; Jacqueline B Zahn; Lynn R Terry; Blaine B Russ; Sozanne R Solmaz
Journal:  Biochemistry       Date:  2019-12-06       Impact factor: 3.162

10.  Coiled-coil registry shifts in the F684I mutant of Bicaudal D result in cargo-independent activation of dynein motility.

Authors:  Heying Cui; M Yusuf Ali; Puja Goyal; Kaiqi Zhang; Jia Ying Loh; Kathleen M Trybus; Sozanne R Solmaz
Journal:  Traffic       Date:  2020-07       Impact factor: 6.215
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