CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

doi:10.1016/j.ajhg.2014.12.003

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

Community

Back to search

Article

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

American journal of human genetics - 8 Jan 2015

Strauss Kevin A, Jinks Robert N, Puffenberger Erik G, Venkatesh Sundararajan, Singh Kamalendra, Cheng Iteen, Mikita Natalie, Thilagavathi Jayapalraja, Lee Jae, Sarafianos Stefan, Benkert Abigail, Koehler Alanna, Zhu Anni, Trovillion Victoria, McGlincy Madeleine, Morlet Thierry, Deardorff Matthew, Innes A Micheil, Prasad Chitra, Chudley Albert E, Lee Irene Nga Wing, Suzuki Carolyn K

Abstract excerpt

CODAS syndrome is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. Using whole-exome and Sanger sequencing, we identified four LONP1 mutations inherited as homozygous or compound-heterozygous combinations among ten individuals with CODAS syndrome. The individuals come from three different ancestral backgrounds (Amish-Swiss from United States, n =...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Dependent Proteases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniofacial Abnormalities

Share to Eye Abnormalities

Share to Growth Disorders

Share to Hip Dislocation, Congenital

Share to Osteochondrodysplasias

Share to Serine Proteases

Share to Tooth Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 25574826
DOI: 10.1016/j.ajhg.2014.12.003
PMCID: PMC4289676

Genes

LONP1

Variants

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.PMID 25574826Read ↗

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.Semantic proximity Read ↗

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.Semantic proximity Read ↗

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.Semantic proximity Read ↗

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.Semantic proximity Read ↗

Association of LONP1 gene with epilepsy and the sub-regional effect.Semantic proximity Read ↗

Emerging role of Lon protease as a master regulator of mitochondrial functions.Semantic proximity Read ↗

LONP1 is required for maturation of a subset of mitochondrial proteins and its loss elicits an integrated stress responseSemantic proximity Read ↗

Structures of the Human LONP1 Protease Reveal Regulatory Steps Involved in Protease ActivationSemantic proximity Read ↗

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.Semantic proximity Read ↗

METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.Semantic proximity Read ↗

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.Semantic proximity Read ↗

A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation.Semantic proximity Read ↗

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