ArticleEuropean journal of human genetics : EJHG2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.Orphanet journal of rare diseases · 2026Pooled it
- Ribosome biogenesis in plants requires the nuclear envelope and mitochondria localized OPENER complex.Nature communications · 2025Article
- A programmed decline in ribosome levels governs human early neurodevelopment.Nature cell biology · 2025Article
- Article
- Cryo-EM structure of the AAA+ SPATA5 complex and its role in human cytoplasmic pre-60S maturation.Nature communications · 2025Article
- The SPATA5-SPATA5L1 ATPase complex directs replisome proteostasis to ensure genome integrity.Cell · 2024Article
- Ribosome biogenesis factors-from names to functions.The EMBO journal · 2023Review
- Ribosome biogenesis and function in development and disease.Development (Cambridge, England) · 2023Review
- Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy.Human genomics · 2023Article
- Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.Human genomics · 2022Article
- Structural dynamics of AAA + ATPase Drg1 and mechanism of benzo-diazaborine inhibition.Nature communications · 2022Article
- Visualizing maturation factor extraction from the nascent ribosome by the AAA-ATPase Drg1.Nature structural & molecular biology · 2022Article
- Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly.Cell reports · 2022Article
- AutoCoEv-A High-Throughput In Silico Pipeline for Predicting Inter-Protein Coevolution.International journal of molecular sciences · 2022Article
- Impacts of impaired mitochondrial dynamics in hearing loss: Potential therapeutic targets.Frontiers in neuroscience · 2022Review
- Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication.Genes · 2021Article
- Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.American journal of human genetics · 2021Article
- Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.International journal of molecular sciences · 2021Article
- Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?Developmental neuroscience · 2021Review
- Mitochondria Autoimmunity and MNRR1 in Breast Carcinogenesis: A Review.Journal of cancer immunology · 2020Article
Corrections and comments
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Authors and funding
21 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, cortical visual impairment and microcephaly. SPATA5 protein localizes predominantly in the mitochondria and is proposed to be involved in mitochondrial function and brain developmental processes. However no functional studies have been performed. This study describes five patients with psychomotor developmental delay, microcephaly, epilepsy and hearing impairment, who were thought clinically to have a mitochondrial disease with subsequent whole-exome sequencing analysis detecting compound heterozygous variants in the SPATA5 gene. A summary of clinical data of all the SPATA5 patients reported in the literature confirms the characteristic phenotype. To assess SPATA5's role in mitochondrial dynamics, functional studies were performed on rat cortical neurons. SPATA5-deficient neurons had a significant imbalance in the mitochondrial fusion-fission rate, impaired energy production and short axons. In conclusion, SPATA5 protein has an important role in mitochondrial dynamics and axonal growth. Biallelic variants in the SPATA5 gene can affect mitochondria in cortical neurons and should be considered in patients with a neurodegenerative disorder and/or with clinical presentation resembling a mitochondrial disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.