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 De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy.

Biomolecules - 26 Aug 2025

Nasca Alessia, Catania Alessia, Legati Andrea, Izzo Rossella, D'onofrio Carola, Ciavattini Teresa, Lamantea Eleonora, Lamperti Costanza, Ghezzi Daniele

Abstract excerpt

Mitochondrial network dynamics, encompassing processes like fission, fusion, and mitophagy, are crucial for mitochondrial function and overall cellular health. Dysregulation of these processes has been linked to various human diseases. Particularly, pathogenic variants in the gene DNM1L can lead to a broad range of clinical phenotypes, ranging from isolated optic atrophy to severe neurological conditions. DNM1L...

Read the complete abstract on PubMed

Topics

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

Share to Dynamins
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to GTP Phosphohydrolases

Share to Mitochondria

Share to Mitochondrial Proteins

Share to Optic Nerve Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 41008537
DOI: 10.3390/biom15091230
PMCID: PMC12467091

Genes

DNM1L

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy.PMID 41008537Read ↗

A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.Semantic proximity Read ↗

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.Semantic proximity Read ↗

Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.Semantic proximity Read ↗

Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.Semantic proximity Read ↗

A novel de novo DNM1L mutation linked to mitochondrial fission dysfunction in a pediatric patient with epileptic encephalopathy and refractory seizuresSemantic proximity Read ↗

A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.Semantic proximity Read ↗

Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders.Semantic proximity Read ↗

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.Semantic proximity Read ↗

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.Semantic proximity Read ↗

Characterization of pathogenic missense mutations in nuclear encoded mitochondrial dynamin -1 like protein.Semantic proximity Read ↗

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.Semantic proximity Read ↗

Domain-Specific Genotype-Phenotype Correlations in DNM1L Disorders: Insights Into Mutation Hotspots and Clinical Severity.Semantic proximity Read ↗

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