Literature DB >> 26916670

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.

Ayca Kiykim1, Wojciech Garncarz2, Elif Karakoc-Aydiner1, Ahmet Ozen1, Ertugrul Kiykim3, Gozde Yesil4, Kaan Boztug5, Safa Baris6.   

Abstract

Entities:  

Keywords:  3-Methylglutaconic acid; CLPB; Cataract; Epilepsy; Microcephaly; Severe congenital neutropenia

Mesh：

Substances：

Year:  2016        PMID： 26916670     DOI： 10.1016/j.clim.2016.02.008

Source DB:  PubMed          Journal:  Clin Immunol        ISSN： 1521-6616            Impact factor:   3.969


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  9 in total

1.  Old and new faces of neutropenia in children.

Authors:  Carlo Dufour; Maurizio Miano; Francesca Fioredda
Journal:  Haematologica       Date:  2016-07       Impact factor: 9.941

2.  A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

Authors:  Ewa Pronicka; Mariola Ropacka-Lesiak; Joanna Trubicka; Magdalena Pajdowska; Markus Linke; Elsebet Ostergaard; Carol Saunders; Sandra Horsch; Clara van Karnebeek; Joy Yaplito-Lee; Felix Distelmaier; Katrin Õunap; Shamima Rahman; Martin Castelle; John Kelleher; Safa Baris; Katarzyna Iwanicka-Pronicka; Colin G Steward; Elżbieta Ciara; Saskia B Wortmann
Journal:  J Inherit Metab Dis       Date:  2017-07-07       Impact factor: 4.982

3.  Unique structural features govern the activity of a human mitochondrial AAA+ disaggregase, Skd3.

Authors:  Ryan R Cupo; Alexandrea N Rizo; Gabriel A Braun; Eric Tse; Edward Chuang; Kushol Gupta; Daniel R Southworth; James Shorter
Journal:  Cell Rep       Date:  2022-09-27       Impact factor: 9.995

4.  Expression and Purification of Recombinant Skd3 (Human ClpB) Protein and Tobacco Etch Virus (TEV) Protease from Escherichia coli.

Authors:  Ryan R Cupo; James Shorter
Journal:  Bio Protoc       Date:  2020-12-05

5.  Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations.

Authors:  Ryan R Cupo; James Shorter
Journal:  Elife       Date:  2020-06-23       Impact factor: 8.140

Review 6.  The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes.

Authors:  Georg Auburger; Jana Key; Suzana Gispert
Journal:  Cells       Date:  2022-08-02       Impact factor: 7.666

7.  Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria.

Authors:  Beatrice Rivalta; Alessandra Torraco; Diego Martinelli; Matteo Luciani; Rosalba Carrozzo; Andrea Finocchi
Journal:  Pediatr Allergy Immunol       Date:  2022-05       Impact factor: 5.464

8.  Heterozygous variants of CLPB are a cause of severe congenital neutropenia.

Authors:  Julia T Warren; Ryan R Cupo; Peeradol Wattanasirakul; David H Spencer; Adam E Locke; Vahagn Makaryan; Audrey Anna Bolyard; Merideth L Kelley; Natalie L Kingston; James Shorter; Christine Bellanné-Chantelot; Jean Donadieu; David C Dale; Daniel C Link
Journal:  Blood       Date:  2022-02-03       Impact factor: 25.476

Review 9.  Mitochondrial Protein Homeostasis and Cardiomyopathy.

Authors:  Emily Wachoski-Dark; Tian Zhao; Aneal Khan; Timothy E Shutt; Steven C Greenway
Journal:  Int J Mol Sci       Date:  2022-03-20       Impact factor: 5.923
  9 in total

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