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

SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA.

Science translational medicine - 2 Mar 2022

Fang Hezhi, Xie Anran, Du Miaomiao, Li Xueyun, Yang Kaiqiang, Fu Yinxu, Yuan Xiangshu, Fan Runxiao, Yu Weidong, Zhou Zhuohua, Sang Tiantian, Nie Ke, Li Jin, Zhao Qiongya, Chen Zhehui, Yang Yanling, Hong Chaoyang, Lyu Jianxin

Abstract excerpt

SERAC1 deficiency is associated with the mitochondrial 3-methylglutaconic aciduria with deafness, (hepatopathy), encephalopathy, and Leigh-like disease [MEGD(H)EL] syndrome, but the role of SERAC1 in mitochondrial physiology remains unknown. Here, we generated Serac1-/- mice that mimic the major diagnostic clinical and biochemical phenotypes of the MEGD(H)EL syndrome. We found that SERAC1 localizes to the outer...

Read the complete abstract on PubMed

Topics

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

Share to Carboxylic Ester Hydrolases
Share to Contracture

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to HEK293 Cells

Share to Mitochondria

Share to Nucleotides

Share to Serine

Share to Syndrome

Source

Identifiers

PMID: 35235340
DOI: 10.1126/scitranslmed.abl6992

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

SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA.PMID 35235340Read ↗

First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.Semantic proximity Read ↗

The TIM22 complex regulates mitochondrial one-carbon metabolism by mediating the import of SideroflexinsSemantic proximity Read ↗

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.Semantic proximity Read ↗

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.Semantic proximity Read ↗

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.Semantic proximity Read ↗

The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism.Semantic proximity Read ↗

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.Semantic proximity Read ↗

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.Semantic proximity Read ↗

Update of the sideroflexin (SLC56) gene familySemantic proximity Read ↗

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.Semantic proximity Read ↗

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymesSemantic proximity Read ↗

Adult stem cell deficits drive Slc29a3 disorders in miceSemantic proximity Read ↗

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