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

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.

American journal of human genetics - 7 Dec 2023

Rios Jonathan J, Li Yang, Paria Nandina, Bohlender Ryan J, Huff Chad, Rosenfeld Jill A, Liu Pengfei, Bi Weimin, Haga Kentaro, Fukuda Mitsunori, Vashisth Shayal, Kaur Kiran, Chahrour Maria H, Bober Michael B, Duker Angela L, Ladha Farah A, Hanchard Neil A, Atala Kristhen, Khanshour Anas M, Smith Linsley, Wise Carol A, Delgado Mauricio R

Abstract excerpt

Hereditary spastic parapareses (HSPs) are clinically heterogeneous motor neuron diseases with variable age of onset and severity. Although variants in dozens of genes are implicated in HSPs, much of the genetic basis for pediatric-onset HSP remains unexplained. Here, we re-analyzed clinical exome-sequencing data from siblings with HSP of unknown genetic etiology and identified an inherited nonsense mutation...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Golgi Apparatus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haploinsufficiency

Share to Mutation

Share to Mutation, Missense

Share to rab GTP-Binding Proteins

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 37924809
DOI: 10.1016/j.ajhg.2023.10.009
PMCID: PMC10722380

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.PMID 37924809Read ↗

AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.Semantic proximity Read ↗

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).Semantic proximity Read ↗

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.Semantic proximity Read ↗

Biallelic WDR91 variants cause a neurodevelopmental disorder through impaired endosomal maturation and autophagy dysregulationSemantic proximity Read ↗

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein traffickingSemantic proximity Read ↗

A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1).Semantic proximity Read ↗

Neuronal vacuolation and spinocerebellar degeneration associated with altered neurotransmission.Semantic proximity Read ↗

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.Semantic proximity Read ↗

A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?Semantic proximity Read ↗

C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementiaSemantic proximity Read ↗

Arrayed CRISPR/Cas9 Loss-Of-Function Screen in a Neuronal Model of Adaptor Protein Complex 4 Deficiency Identifies Modulators of ATG9A TraffickingSemantic proximity Read ↗

Neurogenetic disorders associated with mutations in the FERRY complex: a novel disease class?Semantic proximity Read ↗

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