Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy.

Neuropediatrics - 1 Feb 2022

Murofushi Yuka, Hayakawa Itaru, Abe Yuichi, Ohto Tatsuyuki, Murayama Kei, Suzuki Hisato, Takenouchi Toshiki, Kosaki Kenjiro, Kubota Masaya

Abstract excerpt

KARS encodes lysyl-tRNA synthetase, which is essential for protein translation. KARS mutations sometimes cause impairment of cytoplasmic and mitochondrial protein synthesis, and sometimes lead to progressive leukodystrophies with mitochondrial signature and psychomotor regression, and follow a rapid regressive course to premature death. There has been no disease-modifying therapy beyond supportive treatment. We...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diet, Ketogenic

Share to Mitochondria

Share to Mutation

Source

Identifiers

PMID: 34448181
DOI: 10.1055/s-0041-1732446

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy.PMID 34448181Read ↗

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

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.Semantic proximity Read ↗

KARS Mutations Impair Brain Myelination by Inducing Oligodendrocyte Deficiency: One Potential Mechanism and Improvement by Melatonin.Semantic proximity Read ↗

Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America.Semantic proximity Read ↗

Antibody Deficiency in Patients with Biallelic KARS1 Mutations.Semantic proximity Read ↗

Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report.Semantic proximity Read ↗

Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.Semantic proximity Read ↗

Sjogren-Larsson Syndrome: Mechanisms and ManagementSemantic proximity Read ↗

Hearing impairment-associated KARS mutations lead to defects in aminoacylation of both cytoplasmic and mitochondrial tRNALys.Semantic proximity Read ↗

Progressive Early Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin AmericaSemantic proximity Read ↗

Ketogenic Diet in Neuromuscular and Neurodegenerative DiseasesSemantic proximity Read ↗

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.