ArticleThe Journal of clinical investigation2013
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
Article in The Journal of clinical investigation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 83 citations in OpenAlex.
- MANF safeguards mitochondria-associated endoplasmic reticulum membrane integrity in nucleus pulposus-derived mesenchymal stem cells to maintain homeostasis of the intervertebral disc.Cell biology and toxicology · 2026Article
- Subcellular Proteomic Analyses Reveal REEP5 Knockdown in the Mouse Heart Disrupts Mitochondrial Networks.Molecular & cellular proteomics : MCP · 2026Article
- REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Tubular ER dysfunction in neurodegenerative diseases.Neurobiology of disease · 2025Review
- Pathological characteristics of axons and alterations of proteomic and lipidomic profiles in midbrain dopaminergic neurodegeneration induced by WDR45-deficiency.Molecular neurodegeneration · 2024Article
- Fam134c and Fam134b shape axonal endoplasmic reticulum architecture in vivo.EMBO reports · 2024Article
- Phenotypic variability in a large kindred with spastic paraplegia associated with a noveleNeurologicalSci · 2024Article
- ARL6IP1 gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia model.The Journal of experimental medicine · 2024Article
- Membrane shapers from two distinct superfamilies cooperate in the development of neuronal morphology.The Journal of cell biology · 2023Article
- REEP1 Preserves Motor Function in SOD1Neuroscience bulletin · 2023Article
- Article
- Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling.Zoological research · 2023Review
- Converging Role for REEP1/SPG31 in Oxidative Stress.International journal of molecular sciences · 2023Article
- Ubap1 knock-in mice reproduced the phenotype of SPG80.Journal of human genetics · 2022Article
- TFG regulates secretory and endosomal sorting pathways in neurons to promote their activity and maintenance.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.Human molecular genetics · 2022Article
- TREX1 Deficiency Induces ER Stress-Mediated Neuronal Cell Death by Disrupting CaMolecular neurobiology · 2022Article
- Review
- Transcript isoforms of Reep6 have distinct functions in the retina.Human molecular genetics · 2021Article
- GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.The Journal of clinical investigation · 2021Article
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
20 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Axonopathies are a group of clinically diverse disorders characterized by the progressive degeneration of the axons of specific neurons. In hereditary spastic paraplegia (HSP), the axons of cortical motor neurons degenerate and cause a spastic movement disorder. HSP is linked to mutations in several loci known collectively as the spastic paraplegia genes (SPGs). We identified a heterozygous receptor accessory protein 1 (REEP1) exon 2 deletion in a patient suffering from the autosomal dominantly inherited HSP variant SPG31. We generated the corresponding mouse model to study the underlying cellular pathology. Mice with heterozygous deletion of exon 2 in Reep1 displayed a gait disorder closely resembling SPG31 in humans. Homozygous exon 2 deletion resulted in the complete loss of REEP1 and a more severe phenotype with earlier onset. At the molecular level, we demonstrated that REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the ER. We further show that Reep1 expression was prominent in cortical motor neurons. In REEP1-deficient mice, these neurons showed reduced complexity of the peripheral ER upon ultrastructural analysis. Our study connects proper neuronal ER architecture to long-term axon survival.
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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.