Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

Yeshaya Langer; Adi Aran; Suleyman Gulsuner; Bassam Abu Libdeh; Paul Renbaum; Dario Brunetti; Pedro-Filipe Teixeira; Tom Walsh; Sharon Zeligson; Roberta Ruotolo; Rachel Beeri; Imad Dweikat; Maher Shahrour; Ariella Weinberg-Shukron; Fouad Zahdeh; Enrico Baruffini; Elzbieta Glaser; Mary-Claire King; Ephrat Levy-Lahad; Massimo Zeviani; Reeval Segel

doi:10.1136/jmedgenet-2018-105330

Article info

Neurogenetics

Original article

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

Authors

Yeshaya Langer Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel PubMed articles Google scholar articles
Adi Aran Department of Pediatrics, Neuropediatrics Unit, Shaare Zedek Medical Center and Hebrew University-Hadassah School of Medicine, Jerusalem, Israel PubMed articles Google scholar articles
Suleyman Gulsuner Departments of Medicine and Genome Sciences, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Bassam Abu Libdeh Departments of Pediatrics and Genetics, Makassed Hospital, Al-Quds University, Jerusalem, Israel PubMed articles Google scholar articles
Paul Renbaum Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel PubMed articles Google scholar articles
Dario Brunetti MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy PubMed articles Google scholar articles
Pedro-Filipe Teixeira Department of Biochemistry and Biophysics, Arrhenius Laboratories for Natural Sciences, Stockholm University, Stockholm, Sweden PubMed articles Google scholar articles
Tom Walsh Departments of Medicine and Genome Sciences, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Sharon Zeligson Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel PubMed articles Google scholar articles
Roberta Ruotolo Department of Chemistry, Life Sciences, and Environmental Sustainability, University of Parma, Parma, Italy PubMed articles Google scholar articles
Rachel Beeri Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel PubMed articles Google scholar articles
Imad Dweikat Departments of Pediatrics and Genetics, Makassed Hospital, Al-Quds University, Jerusalem, Israel PubMed articles Google scholar articles
Maher Shahrour Departments of Pediatrics and Genetics, Makassed Hospital, Al-Quds University, Jerusalem, Israel PubMed articles Google scholar articles
Ariella Weinberg-Shukron Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel PubMed articles Google scholar articles
Fouad Zahdeh Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel PubMed articles Google scholar articles
Enrico Baruffini Department of Chemistry, Life Sciences, and Environmental Sustainability, University of Parma, Parma, Italy PubMed articles Google scholar articles
Elzbieta Glaser Department of Biochemistry and Biophysics, Arrhenius Laboratories for Natural Sciences, Stockholm University, Stockholm, Sweden PubMed articles Google scholar articles
Mary-Claire King Departments of Medicine and Genome Sciences, University of Washington, Seattle, Washington, USA PubMed articles Google scholar articles
Ephrat Levy-Lahad Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University-Hadassah School of Medicine, Jerusalem, Israel PubMed articles Google scholar articles
Massimo Zeviani MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK PubMed articles Google scholar articles
Reeval Segel Department of Pediatrics, Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University-Hadassah School of Medicine, Jerusalem, Israel PubMed articles Google scholar articles

Correspondence to Dr Reeval Segel, Department of Pediatrics, Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University-Hadassah School of Medicine, Jerusalem 91031, Israel; reevals{at}szmc.org.il

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Citation

Langer Y, Aran A, Gulsuner S, et al

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

Journal of Medical Genetics 2018;55:599-606.

Publication history

Received February 12, 2018
Revised March 28, 2018
Accepted April 10, 2018
First published May 15, 2018.

Online issue publication

June 15, 2020

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