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

Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria.

Human molecular genetics - 15 Dec 2015

Ruppert T, Schumann A, Gröne H J, Okun J G, Kölker S, Morath M A, Sauer S W

Abstract excerpt

Methylmalonic acidurias (MMAurias) are a group of inherited disorders in the catabolism of branched-chain amino acids, odd-chain fatty acids and cholesterol caused by complete or partial deficiency of methylmalonyl-CoA mutase (mut(0) and mut(-) subtype respectively) and by defects in the metabolism of its cofactor 5'-deoxyadenosylcobalamin (cblA, cblB or cblD variant 2 type). A long-term complication found in...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Autophagy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Line, Transformed

Share to Interleukin-8

Share to Kidney Tubules, Proximal

Share to Nephritis, Interstitial

Share to TOR Serine-Threonine Kinases

Source

Identifiers

PMID: 26420839
DOI: 10.1093/hmg/ddv405

Genes

AQP1
AQP2
UMOD

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

Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria.PMID 26420839Read ↗

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.Semantic proximity Read ↗

Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promiseSemantic proximity Read ↗

Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.Semantic proximity Read ↗

Novel Mechanism for Tubular Injury in Nephropathic CystinosisSemantic proximity Read ↗

Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.Semantic proximity Read ↗

Integration of proteomics and metabolomics data in a novel cellular knock out model of methylmalonic acidemiaSemantic proximity Read ↗

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemiaSemantic proximity Read ↗

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.Semantic proximity Read ↗

Cellular and computational models reveal environmental and genetic interactions in <i>MMUT</i> -type methylmalonic aciduriaSemantic proximity Read ↗

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.Semantic proximity Read ↗

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.Semantic proximity Read ↗

A Novel Mmachc c.80A>G Mouse Model Reveals the Role of Mitochondrial Dysfunction in Skeletal Muscle in Combined Methylmalonic Acidemia and HomocystinuriaSemantic proximity Read ↗

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