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

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.

Biochemical and biophysical research communications - 20 Apr 2007

Mkaouar-Rebai Emna, Tlili Abdelaziz, Masmoudi Saber, Belguith Neila, Charfeddine Ilhem, Mnif Mouna, Triki Chahnez, Fakhfakh Faiza

Abstract excerpt

The mitochondrial tRNA(Leu(UUR)) gene (MTTL) is a hot spot for pathogenic mutations that are associated with mitochondrial diseases with various clinical features. Among these mutations, the A3243G mutation was associated with various types of mitochondrial multisystem disorders, such as MIDD, MELAS, MERRF, PEO, hypertrophic cardiomyopathy, and a subtype of Leigh syndrome. We screened 128 Tunisian patients for...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Guanosine

Share to Mitochondrial Diseases

Share to Nucleic Acid Conformation

Share to Pedigree

Share to RNA, Transfer, Leu

Share to Tunisia

Source

Identifiers

PMID: 17336924
DOI: 10.1016/j.bbrc.2007.02.083

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.PMID 17336924Read ↗

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.Semantic proximity Read ↗

Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.Semantic proximity Read ↗

Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation.Semantic proximity Read ↗

A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy.Semantic proximity Read ↗

A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy.Semantic proximity Read ↗

A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy.Semantic proximity Read ↗

Respiratory chain complex III deficiency in patients with tRNA-leu mutation.Semantic proximity Read ↗

A whole mitochondrial genome screening in a MELAS patient: a novel mitochondrial tRNA(Val) mutation.Semantic proximity Read ↗

Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families.Semantic proximity Read ↗

Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene.Semantic proximity Read ↗

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.Semantic proximity Read ↗

A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR).Semantic proximity Read ↗

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