Literature DB >> 31392254

VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation.

Claudio M de Gusmao1, Scellig Stone2, Jeff L Waugh1,3, Edward Yang4, Guy M Lenk5, Lance H Rodan1,6.   

Abstract

Entities:  

Keywords:  deep brain stimulation; dystonia; inborn genetic disease; neurodegeneration with brain iron accumulation; parkinsonism

Year:  2019        PMID： 31392254      PMCID： PMC6660234          DOI： 10.1002/mdc3.12797

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  9 in total

1.  A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.

Authors:  Shaghayegh Taghavi; Rita Chaouni; Abbas Tafakhori; Luis J Azcona; Saghar Ghasemi Firouzabadi; Mir Davood Omrani; Javad Jamshidi; Babak Emamalizadeh; Gholam Ali Shahidi; Mona Ahmadi; Seyed Amir Hassan Habibi; Azadeh Ahmadifard; Atena Fazeli; Marzieh Motallebi; Peyman Petramfar; Saeed Askarpour; Shiva Askarpour; Hossein Ali Shahmohammadibeni; Neda Shahmohammadibeni; Hajar Eftekhari; Amir Ehtesham Shafiei Zarneh; Saeed Mohammadihosseinabad; Mehdi Khorrami; Safa Najmi; Ahmad Chitsaz; Parasto Shokraeian; Hossein Ehsanbakhsh; Jalal Rezaeidian; Reza Ebrahimi Rad; Faranak Madadi; Monavvar Andarva; Elham Alehabib; Minoo Atakhorrami; Seyed Erfan Mortazavi; Zahra Azimzadeh; Mahdis Bayat; Amir Mohammad Besharati; Mohammad Ali Harati-Ghavi; Samareh Omidvari; Zahra Dehghani-Tafti; Faraz Mohammadi; Banafsheh Mohammad Hossein Pour; Hamid Noorollahi Moghaddam; Ehsan Esmaili Shandiz; Arman Habibi; Zahra Taherian-Esfahani; Hossein Darvish; Coro Paisán-Ruiz
Journal:  Mol Neurobiol       Date:  2017-05-13       Impact factor: 5.590

2.  Vac7p, a novel vacuolar protein, is required for normal vacuole inheritance and morphology.

Authors:  C J Bonangelino; N L Catlett; L S Weisman
Journal:  Mol Cell Biol       Date:  1997-12       Impact factor: 4.272

3.  Pallidal stimulation improves pantothenate kinase-associated neurodegeneration.

Authors:  Pierre Castelnau; Laura Cif; Enza Maria Valente; Nathalie Vayssiere; Simone Hemm; Amandine Gannau; Annalisa Digiorgio; Philippe Coubes
Journal:  Ann Neurol       Date:  2005-05       Impact factor: 10.422

4.  Vac14 protein multimerization is a prerequisite step for Fab1 protein complex assembly and function.

Authors:  Tamadher A Alghamdi; Cheuk Y Ho; Amra Mrakovic; Danielle Taylor; Daniel Mao; Roberto J Botelho
Journal:  J Biol Chem       Date:  2013-02-06       Impact factor: 5.157

5.  Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.

Authors:  Yanling Zhang; Sergey N Zolov; Clement Y Chow; Shalom G Slutsky; Simon C Richardson; Robert C Piper; Baoli Yang; Johnathan J Nau; Randal J Westrick; Sean J Morrison; Miriam H Meisler; Lois S Weisman
Journal:  Proc Natl Acad Sci U S A       Date:  2007-10-23       Impact factor: 11.205

Review 6.  Deep brain stimulation for dystonia.

Authors:  Marie Vidailhet; Marie-France Jutras; David Grabli; Emmanuel Roze
Journal:  J Neurol Neurosurg Psychiatry       Date:  2012-11-15       Impact factor: 10.154

7.  Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.

Authors:  Guy M Lenk; Krystyna Szymanska; Grazyna Debska-Vielhaber; Malgorzata Rydzanicz; Anna Walczak; Monika Bekiesinska-Figatowska; Stefan Vielhaber; Kerstin Hallmann; Piotr Stawinski; Sonja Buehring; David A Hsu; Wolfram S Kunz; Miriam H Meisler; Rafal Ploski
Journal:  Am J Hum Genet       Date:  2016-06-09       Impact factor: 11.025

8.  Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.

Authors:  Chloe Stutterd; Peter Diakumis; Melanie Bahlo; Miriam Fanjul Fernandez; Richard J Leventer; Martin Delatycki; David Amor; Chung W Chow; Sarah Stephenson; Miriam H Meisler; Catriona Mclean; Paul J Lockhart
Journal:  Ann Clin Transl Neurol       Date:  2017-11-07       Impact factor: 4.511

9.  VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.

Authors:  Natsuko Jin; Clement Y Chow; Li Liu; Sergey N Zolov; Roderick Bronson; Muriel Davisson; Jason L Petersen; Yanling Zhang; Sujin Park; Jason E Duex; Daniel Goldowitz; Miriam H Meisler; Lois S Weisman
Journal:  EMBO J       Date:  2008-11-27       Impact factor: 11.598
  9 in total
  2 in total

Review 1.  Roles of PIKfyve in multiple cellular pathways.

Authors:  Pilar Rivero-Ríos; Lois S Weisman
Journal:  Curr Opin Cell Biol       Date:  2022-05-16       Impact factor: 8.386

2.  Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

Authors:  Shekeeb S Mohammad; Rajeshwar Reddy Angiti; Andrew Biggin; Hugo Morales-Briceño; Robert Goetti; Belen Perez-Dueñas; Allison Gregory; Penelope Hogarth; Joanne Ng; Apostolos Papandreou; Kaustuv Bhattacharya; Shamima Rahman; Kristina Prelog; Richard I Webster; Evangeline Wassmer; Susan Hayflick; John Livingston; Manju Kurian; W Kling Chong; Russell C Dale
Journal:  Brain Commun       Date:  2020-10-26
  2 in total

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