Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.

doi:10.1002/humu.24210

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Article

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.

Human mutation - 1 Jun 2021

Cappuccio Gerarda, Ceccatelli Berti Camilla, Baruffini Enrico, Sullivan Jennifer, Shashi Vandana, Jewett Tamison, Stamper Tara, Maitz Silvia, Canonico Francesco, Revah-Politi Anya, Kupchik Gabriel S, Anyane-Yeboa Kwame, Aggarwal Vimla, Benneche Andreas, Bratland Eirik, Berland Siren, D'Arco Felice, Alves Cesar A, Vanderver Adeline, Longo Daniela, Bertini Enrico, Torella Annalaura, Nigro Vincenzo, D'Amico Alessandra, van der Knaap Marjo S, Goffrini Paola, Brunetti-Pierri Nicola

Abstract excerpt

KARS1 encodes a lysyl-transfer RNA synthetase (LysRS) that links lysine to its cognate transfer RNA. Two different KARS1 isoforms exert functional effects in cytosol and mitochondria. Bi-allelic pathogenic variants in KARS1 have been associated to sensorineural hearing and visual loss, neuropathy, seizures, and leukodystrophy. We report the clinical, biochemical, and neuroradiological features of nine individuals...

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PMID: 33942428
DOI: 10.1002/humu.24210
PMCID: PMC8251883

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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