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

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.

Human molecular genetics - 15 Jul 2008

Balreira Andrea, Gaspar Paulo, Caiola Daniel, Chaves João, Beirão Idalina, Lima José Lopes, Azevedo Jorge Eduardo, Miranda Maria Clara Sá

Abstract excerpt

The main clinical features of two siblings from a consanguineous marriage were progressive myoclonic epilepsy without intellectual impairment and a nephrotic syndrome with a strong accumulation of C1q in capillary loops and mesangium of kidney. The biochemical analysis of one of the patients revealed a normal beta-glucocerebrosidase activity in leukocytes, but a severe enzymatic deficiency in cultured skin...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Glucosylceramidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukocytes

Share to Lysosomal Membrane Proteins

Share to Mannosyl-Glycoprotein Endo-beta-N-Acetylglucosaminidase

Share to Myoclonic Epilepsies, Progressive

Share to Nephrotic Syndrome

Share to Receptors, Scavenger

Source

Identifiers

PMID: 18424452
DOI: 10.1093/hmg/ddn124

Genes

SCARB2

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

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.PMID 18424452Read ↗

A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure.Semantic proximity Read ↗

A mutation in SCARB2 is a modifier in Gaucher disease.Semantic proximity Read ↗

Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.Semantic proximity Read ↗

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.Semantic proximity Read ↗

Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.Semantic proximity Read ↗

Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.Semantic proximity Read ↗

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.Semantic proximity Read ↗

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.Semantic proximity Read ↗

A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.Semantic proximity Read ↗

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.Semantic proximity Read ↗

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.Semantic proximity Read ↗

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).Semantic proximity Read ↗

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