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

The role of PQBP1 in neural development and function.

Biochemical Society transactions - 27 Feb 2023

Cheng Shanshan, Liu Xian, Yuan Linjuan, Wang Nan, Zhang Zi Chao, Han Junhai

Abstract excerpt

Mutations in the polyglutamine tract-binding protein 1 (PQBP1) gene are associated with Renpenning syndrome, which is characterized by microcephaly, intellectual deficiency, short stature, small testes, and distinct facial dysmorphism. Studies using different models have revealed that PQBP1 plays essential roles in neural development and function. In this mini-review, we summarize recent findings relating to the...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Carrier Proteins
Share to Cerebral Palsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Intellectual Disability

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 36815699
DOI: 10.1042/BST20220920

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The role of PQBP1 in neural development and function.PMID 36815699Read ↗

Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning.Semantic proximity Read ↗

A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation.Semantic proximity Read ↗

First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.Semantic proximity Read ↗

Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction.Semantic proximity Read ↗

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.Semantic proximity Read ↗

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.Semantic proximity Read ↗

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.Semantic proximity Read ↗

Using Allen Brain Cell Atlas of the Human Brain to Gain Insights into the C-Terminal Binding Protein 1 (CTBP1)’s Potential FunctionSemantic proximity Read ↗

Renpenning syndrome in an Indian patient.Semantic proximity Read ↗

Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene.Semantic proximity Read ↗

hnRNPs: roles in neurodevelopment and implication for brain disordersSemantic proximity Read ↗

CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.Semantic proximity Read ↗

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