A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism-Reference-Cited by-同舟云学术

A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism

Published:2019-08-07 Issue:10 Volume:33 Page:11284-11302
ISSN:0892-6638
Container-title:The FASEB Journal
language:en
Short-container-title:FASEB j.

Author:

Diquigiovanni Chiara¹,Bergamini Christian²,Diaz Rebeca³,Liparulo Irene²,Bianco Francesca¹,Masin Luca²,Baldassarro Vito Antonio⁴,Rizzardi Nicola²,Tranchina Antonia¹,Buscherini Francesco¹,Wischmeijer Anita⁵,Pippucci Tommaso¹,Scarano Emanuela⁶,Cordelli Duccio Maria⁷,Fato Romana²,Seri Marco¹,Paracchini Silvia³,Bonora Elena¹

Affiliation:

1. Department of Medical and Surgical Sciences (DIMEC)University of BolognaBolognaItaly

2. Department of Pharmacy and Biotechnology (FaBit)University of BolognaBolognaItaly

3. School of MedicineUniversity of St. AndrewsSt. AndrewsUnited Kingdom

4. IRET FoundationOzzano EmiliaBolognaItaly

5. Department of PediatricsClinical Genetics ServiceRegional Hospital of South TyrolBolzanoItaly

6. Rare Disease UnitDepartment of PediatricsUniversity of BolognaBolognaItaly

7. Child Neurology and Psychiatry UnitSt. Orsola-Malpighi HospitalUniversity of BolognaBolognaItaly

Funder

Fondazione Telethon

Associazione Italiana per la Ricerca sul Cancro

Royal Society

Publisher

Wiley

Subject

Genetics,Molecular Biology,Biochemistry,Biotechnology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1096/fj.201802722R

Reference65 articles.

1. Prevalence and architecture of de novo mutations in developmental disorders

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3. Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

4. Recurrent null mutation in SPG20 leads to Troyer syndrome

5. Developmental and degenerative features in a complicated spastic paraplegia

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