A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients-Reference-Cited by-同舟云学术

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

Published:2017-07-07 Issue:6 Volume:40 Page:853-860
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Pronicka Ewa, ,Ropacka-Lesiak Mariola,Trubicka Joanna,Pajdowska Magdalena,Linke Markus,Ostergaard Elsebet,Saunders Carol,Horsch Sandra,van Karnebeek Clara,Yaplito-Lee Joy,Distelmaier Felix,Õunap Katrin,Rahman Shamima,Castelle Martin,Kelleher John,Baris Safa,Iwanicka-Pronicka Katarzyna,Steward Colin G.,Ciara Elżbieta,Wortmann Saskia B.

Funder

Van Leersumfonds, Koninklijke Nederlandse Akademie van Wetenschappen

Michael Smith Foundation for Health Research

ESN

Internal Funding from the Children’s Memorial Health Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-017-0057-z/fulltext.html

Reference9 articles.

1. Adzhubei IA, Schmidt S, Peshkin L et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249

2. Baskett TF, Allen AC, Gray JH, Young DC, Young LM (1987) Fetal biophysical profile and perinatal death. Obstet Gynecol 70:357–360

3. Capo-Chichi JM, Boissel S, Brustein E et al (2015) Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet 52:303–311

4. Kanabus M, Shahni R, Saldanha JW et al (2015) Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis 38:211–219

5. Kiykim A, Garncarz W, Karakoc-Aydiner E, Ozen A, Kiykim E, Yesil G, Boztug K, Baris S (2016) Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. Clin Immunol 165:1–3

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1. Decoding Skd3 (Human CLPB): a Mitochondrial Protein Disaggregase Critical for Human Health;Israel Journal of Chemistry;2024-01-19

2. CLPB Deficiency Associated Neonatal Cavitating Leukoencephalopathy: A Potential Pathomechanism Underlying Neurologic Disorder;Pediatric and Developmental Pathology;2023-10-30

3. Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function;Annals of Neurology;2023-08-31

4. Structural basis of impaired disaggregase function in the oxidation-sensitive SKD3 mutant causing 3-methylglutaconic aciduria;Nature Communications;2023-04-11

5. Comprehensive structural characterization of the human AAA+ disaggregase CLPB in the apo- and substrate-bound states reveals a unique mode of action driven by oligomerization;PLOS Biology;2023-02-06

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