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

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.

International journal of molecular sciences - 15 Dec 2021

Barbosa-Gouveia Sofia, Vázquez-Mosquera Maria E, Gonzalez-Vioque Emiliano, Hermida-Ameijeiras Álvaro, Valverde Laura L, Armstrong-Moron Judith, Fons-Estupiña Maria Del Carmen, Wintjes Liesbeth T, Kappen Antonia, Rodenburg Richard J, Couce Maria L

Abstract excerpt

Mitochondrial functional integrity depends on protein and lipid homeostasis in the mitochondrial membranes and disturbances in their accumulation can cause disease. AGK, a mitochondrial acylglycerol kinase, is not only involved in lipid signaling but is also a component of the TIM22 complex in the inner mitochondrial membrane, which mediates the import of a subset of membrane proteins. AGK mutations can alter...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathies
Share to Cataract

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Membrane Transport Proteins

Share to Mitochondrial Membranes

Share to Oxidative Phosphorylation

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Protein Transport

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 34948281
DOI: 10.3390/ijms222413484
PMCID: PMC8708263

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.PMID 34948281Read ↗

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.Semantic proximity Read ↗

Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria.Semantic proximity Read ↗

Mutation in the AGK gene in two siblings with unusual Sengers syndrome.Semantic proximity Read ↗

Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.Semantic proximity Read ↗

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.Semantic proximity Read ↗

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

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.Semantic proximity Read ↗

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

Acylglycerol Kinase: Mitochondrial Protein Transport Meets Lipid Biosynthesis.Semantic proximity Read ↗

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.Semantic proximity Read ↗

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.Semantic proximity Read ↗

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.Semantic proximity Read ↗

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