Literature DB >> 27021474

Mutational analysis of COASY in an Italian patient with NBIA.

Grazia Annesi1, Monica Gagliardi2, Grazia Iannello3, Aldo Quattrone3, Grazia Iannello3, Aldo Quattrone3.   

Abstract

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Year:  2016        PMID： 27021474     DOI： 10.1016/j.parkreldis.2016.03.011

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  6 in total

1.  Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

Authors:  Arcangela Iuso; Marit Wiersma; Hans-Joachim Schüller; Ben Pode-Shakked; Dina Marek-Yagel; Mathias Grigat; Thomas Schwarzmayr; Riccardo Berutti; Bader Alhaddad; Bart Kanon; Nicola A Grzeschik; Jürgen G Okun; Zeev Perles; Yishay Salem; Ortal Barel; Amir Vardi; Marina Rubinshtein; Tal Tirosh; Gal Dubnov-Raz; Ana C Messias; Caterina Terrile; Iris Barshack; Alex Volkov; Camilla Avivi; Eran Eyal; Elisa Mastantuono; Muhamad Kumbar; Shachar Abudi; Matthias Braunisch; Tim M Strom; Thomas Meitinger; Georg F Hoffmann; Holger Prokisch; Tobias B Haack; Bianca J J M Brundel; Dorothea Haas; Ody C M Sibon; Yair Anikster
Journal:  Am J Hum Genet       Date:  2018-05-10       Impact factor: 11.025

2.  Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.

Authors:  Tessa van Dijk; Sacha Ferdinandusse; Jos P N Ruiter; Mariëlle Alders; Inge B Mathijssen; Jillian S Parboosingh; A Micheil Innes; Hanne Meijers-Heijboer; Bwee Tien Poll-The; Francois P Bernier; Ronald J A Wanders; Ryan E Lamont; Frank Baas
Journal:  Eur J Hum Genet       Date:  2018-08-08       Impact factor: 4.246

3.  Down-regulation of coasy, the gene associated with NBIA-VI, reduces Bmp signaling, perturbs dorso-ventral patterning and alters neuronal development in zebrafish.

Authors:  Deepak Khatri; Daniela Zizioli; Natascia Tiso; Nicola Facchinello; Sara Vezzoli; Alessandra Gianoncelli; Maurizio Memo; Eugenio Monti; Giuseppe Borsani; Dario Finazzi
Journal:  Sci Rep       Date:  2016-11-28       Impact factor: 4.379

4.  Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

Authors:  Hassan Dastsooz; Hamid Nemati; Mohammad Ali Farazi Fard; Majid Fardaei; Mohammad Ali Faghihi
Journal:  BMC Med Genet       Date:  2017-08-18       Impact factor: 2.103

5.  Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model.

Authors:  Ivano Di Meo; Chiara Cavestro; Silvia Pedretti; Tingting Fu; Simona Ligorio; Antonello Manocchio; Lucrezia Lavermicocca; Paolo Santambrogio; Maddalena Ripamonti; Sonia Levi; Sophie Ayciriex; Nico Mitro; Valeria Tiranti
Journal:  Int J Mol Sci       Date:  2020-12-19       Impact factor: 5.923

Review 6.  New Perspectives in Iron Chelation Therapy for the Treatment of Neurodegenerative Diseases.

Authors:  Marco T Nuñez; Pedro Chana-Cuevas
Journal:  Pharmaceuticals (Basel)       Date:  2018-10-19
  6 in total

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