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A mutagenesis analysis of Tim50, the major receptor of the TIM23 complex, identifies regions that affect its interaction with Tim23

Dana Dayan
May Bandel
Abdussalam Azem
ResearchOpen Access14 Feb 2019
Scientific Reports

Volume: 9, P: 1-10
A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy

Malay Patra
Celeste Weiss
Abdussalam Azem
Research15 Feb 2019
European Journal of Human Genetics

Volume: 27, P: 1072-1080
Structural basis for active single and double ring complexes in human mitochondrial Hsp60-Hsp10 chaperonin

The mHsp60-mHsp10 chaperonin system forms alternating single and double ring complexes to assist protein folding, but the molecular details of this cycle are not fully understood. Here, the authors present cryoEM and crystal structures of key intermediates of the mHsp60-mHsp10 reaction cycle.

Yacob Gomez-Llorente
Fady Jebara
Iban Ubarretxena-Belandia
ResearchOpen Access21 Apr 2020
Nature Communications

Volume: 11, P: 1-14
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy

Marie Anne-Catherine Neumann
Dajana Grossmann
Rejko Krüger
ResearchOpen Access07 Oct 2020
Scientific Reports

Volume: 10, P: 1-15
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority

Anja K. Mayer
Ghassan Balousha
Bernd Wissinger
Research02 Jan 2020
European Journal of Human Genetics

Volume: 28, P: 742-753
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Holger Hengel
Rebecca Buchert
Ludger Schöls
ResearchOpen Access25 Mar 2020
European Journal of Human Genetics

Volume: 28, P: 1034-1043
Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Holger Hengel
Rebecca Buchert
Ludger Schöls
Amendments and CorrectionsOpen Access28 May 2021
European Journal of Human Genetics

Volume: 30, P: 248

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A mutagenesis analysis of Tim50, the major receptor of the TIM23 complex, identifies regions that affect its interaction with Tim23

A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy

Structural basis for active single and double ring complexes in human mitochondrial Hsp60-Hsp10 chaperonin

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

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