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

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Brain : a journal of neurology - 1 Nov 2016

Wan Jijun, Steffen Janos, Yourshaw Michael, Mamsa Hafsa, Andersen Erik, Rudnik-Schöneborn Sabine, Pope Kate, Howell Katherine B, McLean Catriona A, Kornberg Andrew J, Joseph Jörg, Lockhart Paul J, Zerres Klaus, Ryan Monique M, Nelson Stanley F, Koehler Carla M, Jen Joanna C

Abstract excerpt

Disturbed mitochondrial fusion and fission have been linked to various neurodegenerative disorders. In siblings from two unrelated families who died soon after birth with a profound neurodevelopmental disorder characterized by pontocerebellar hypoplasia and apnoea, we discovered a missense mutation and an exonic deletion in the SLC25A46 gene encoding a mitochondrial protein recently implicated in optic atrophy...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acids
Share to Animals, Genetically Modified

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Line, Transformed

Share to Cerebellar Diseases

Share to Embryo, Nonmammalian

Share to Mitochondrial Dynamics

Share to Mitochondrial Proteins

Share to Phosphate Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 27543974
DOI: 10.1093/brain/aww212
PMCID: PMC5840878

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

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.PMID 27543974Read ↗

Novel insights into SLC25A46-related pathologies in a genetic mouse model.Semantic proximity Read ↗

SLC25A46 localizes to sites of mitochondrial fission and fusion and loss of function variants alter the oligomerization states of MFN2 and OPA1Semantic proximity Read ↗

SLC-25A46 Regulates Mitochondrial Fusion through FZO-1/Mitofusin and is Essential for Maintaining Neuronal MorphologySemantic proximity Read ↗

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.Semantic proximity Read ↗

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.Semantic proximity Read ↗

Novel Drosophila model for mitochondrial diseases by targeting of a solute carrier protein SLC25A46.Semantic proximity Read ↗

Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.Semantic proximity Read ↗

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.Semantic proximity Read ↗

Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report.Semantic proximity Read ↗

Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health.Semantic proximity Read ↗

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.Semantic proximity Read ↗

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease.Semantic proximity Read ↗

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