Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

doi:10.1016/j.neuron.2020.10.035

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

Community

Back to search

Article

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

Neuron - 20 Jan 2021

Chai Guoliang, Webb Alice, Li Chen, Antaki Danny, Lee Sangmoon, Breuss Martin W, Lang Nhi, Stanley Valentina, Anzenberg Paula, Yang Xiaoxu, Marshall Trevor, Gaffney Patrick, Wierenga Klaas J, Chung Brian Hon-Yin, Tsang Mandy Ho-Yin, Pais Lynn S, Lovgren Alysia Kern, VanNoy Grace E, Rehm Heidi L, Mirzaa Ghayda, Leon Eyby, Diaz Jullianne, Neumann Alexander, Kalverda Arnout P, Manfield Iain W, Parry David A, Logan Clare V, Johnson Colin A, Bonthron David T, Valleley Elizabeth M A, Issa Mahmoud Y, Abdel-Ghafar Sherif F, Abdel-Hamid Mohamed S, Jennings Patricia, Zaki Maha S, Sheridan Eamonn, Gleeson Joseph G

Abstract excerpt

Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. Here, we identified 10 families showing a neurodegenerative condition involving pontocerebellar hypoplasia with microcephaly (PCHM). Patients harbored biallelic mutations in genes encoding the spliceosome components Peptidyl-Prolyl Isomerase...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellar Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Knockout Techniques

Share to Heredodegenerative Disorders, Nervous System

Share to Microcephaly

Share to Peptidylprolyl Isomerase

Share to Protein Structure, Secondary

Share to RNA Splicing Factors

Share to Spliceosomes

Source

Open in PubMed Open full text

Identifiers

PMID: 33220177
DOI: 10.1016/j.neuron.2020.10.035
PMCID: PMC8800389

Genes

PPIL1
GC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.PMID 33220177Read ↗

Splicing Control of Pontocerebellar Development.Semantic proximity Read ↗

The Clp1 R140H mutation alters tRNA metabolism and mRNA 3' processing in mouse models of pontocerebellar hypoplasia.Semantic proximity Read ↗

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Semantic proximity Read ↗

Modeling a human CLP1 mutation in mouse identifies an accumulation of tyrosine pre-tRNA fragments causing pontocerebellar hypoplasia type 10.Semantic proximity Read ↗

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.Semantic proximity Read ↗

Splicing and neurodegeneration: Insights and mechanismsSemantic proximity Read ↗

Report of new variants in PPIL1 underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses.Semantic proximity Read ↗

Retinitis pigmentosa associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule neuronsSemantic proximity Read ↗

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.Semantic proximity Read ↗

Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration modelsSemantic proximity Read ↗

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDERSemantic proximity Read ↗

A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons.Semantic proximity Read ↗

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