Ontology highlight
ABSTRACT:
SUBMITTER: Iqbal Z
PROVIDER: S-EPMC4755381 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Iqbal Zafar Z Iqbal Zafar Z Püttmann Lucia L Musante Luciana L Razzaq Attia A Zahoor Muhammad Yasir MY Hu Hao H Wienker Thomas F TF Garshasbi Masoud M Fattahi Zohreh Z Gilissen Christian C Vissers Lisenka E L M LE de Brouwer Arjan P M AP Veltman Joris A JA Pfundt Rolph R Najmabadi Hossein H Ropers Hans-Hilger HH Riazuddin Sheikh S Kahrizi Kimia K van Bokhoven Hans H
European journal of human genetics : EJHG 20150715 3
AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. Here, we present two consanguineous families from Pakistan and Iran, presenting ...[more]