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

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

Mitochondrion - 1 Jan 2016

Ferrer-Cortès Xènia, Narbona Juan, Bujan Núria, Matalonga Leslie, Del Toro Mireia, Arranz José Antonio, Riudor Encarnació, Garcia-Cazorla Angels, Jou Cristina, O'Callaghan Mar, Pineda Mercé, Montero Raquel, Arias Angela, García-Villoria Judit, Alston Charlotte L, Taylor Robert W, Briones Paz, Ribes Antonia, Tort Frederic

Abstract excerpt

Mutations in NFU1 were recently identified in patients with fatal encephalopathy. NFU1 is an iron-sulfur cluster protein necessary for the activity of the mitochondrial respiratory chain complexes I-II and the synthesis of lipoic acid. We report two NFU1 compound heterozygous individuals with normal complex I and lipoic acid-dependent enzymatic activities and low, but detectable, levels of lipoylated proteins. We...

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases, Metabolic
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Lipoylation

Share to Mutation

Share to Radiography

Share to RNA Splice Sites

Share to RNA Splicing

Source

Identifiers

PMID: 26688339
DOI: 10.1016/j.mito.2015.12.004

Genes

NFU1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.PMID 26688339Read ↗

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.Semantic proximity Read ↗

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.Semantic proximity Read ↗

NFU1 gene mutation and mitochondrial disorders.Semantic proximity Read ↗

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.Semantic proximity Read ↗

Assembly of the [4Fe-4S] cluster of NFU1 requires the coordinated donation of two [2Fe-2S] clusters from the scaffold proteins, ISCU2 and ISCA1.Semantic proximity Read ↗

Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers.Semantic proximity Read ↗

Exome sequencing identifies <i><scp>NFS</scp>1</i> deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex <scp>II</scp>/<scp>III</scp> deficiencySemantic proximity Read ↗

A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.Semantic proximity Read ↗

Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation.Semantic proximity Read ↗

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.Semantic proximity Read ↗

Single Mutation in the NFU1 Gene Metabolically Reprograms Pulmonary Artery Smooth Muscle Cells.Semantic proximity Read ↗

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.Semantic proximity Read ↗

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