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Page 1
Distal hereditary motor neuropathies.
Tazir M, Nouioua S. Tazir M, et al. Rev Neurol (Paris). 2024 Dec;180(10):1031-1036. doi: 10.1016/j.neurol.2023.09.005. Epub 2024 May 3. Rev Neurol (Paris). 2024. PMID: 38702287 Review.
Distal hereditary motor neuropathy that predominates in the upper limbs is linked mainly to three genes: GARS, BSCL2 and REEP1, whereas dHMN with vocal cord palsy is associated with SLC5A7, DCTN1 and TRPV4 genes. ...
Distal hereditary motor neuropathy that predominates in the upper limbs is linked mainly to three genes: GARS, BSCL2 and REEP1, where …
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network; Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G. Méreaux JL, et al. Brain. 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. Brain. 2022. PMID: 34983064 Free article.
SPAST and SPG7 were the most frequently mutated genes, representing 142 (9.2%) and 75 (4.8%) index cases of the whole series, respectively. KIF1A, ATL1, SPG11, KIF5A and REEP1 represented more than 1% (>17 cases) each. There were 661 causative variants (382 different on …
SPAST and SPG7 were the most frequently mutated genes, representing 142 (9.2%) and 75 (4.8%) index cases of the whole series, respectively. …
A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia.
Park SY, Park JM, Lee B, Kim UK, Park JS. Park SY, et al. Gene. 2021 Jan 10;765:145129. doi: 10.1016/j.gene.2020.145129. Epub 2020 Sep 6. Gene. 2021. PMID: 32905827
We report on a family with three generations of autosomal dominant inheritance of HSP caused by a novel heterozygous splice-site mutation (c.303 + 2 T > C) in REEP1 that was confirmed by RFLP analysis. Carriers of the mutation, including one asymptomatic individual, sho …
We report on a family with three generations of autosomal dominant inheritance of HSP caused by a novel heterozygous splice-site mutation (c …
Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing.
Korneck M, Leonhardt A, Schöls L, Hauser S. Korneck M, et al. Stem Cell Res. 2024 Jun;77:103378. doi: 10.1016/j.scr.2024.103378. Epub 2024 Mar 5. Stem Cell Res. 2024. PMID: 38479332 Free article.
REEP1 is a transmembrane protein in the endoplasmic reticulum (ER) membrane that is involved in shaping and remodeling of the ER. Mutations in REEP1 cause SPG31, an autosomal dominant form of hereditary spastic paraplegia (HSP). ...
REEP1 is a transmembrane protein in the endoplasmic reticulum (ER) membrane that is involved in shaping and remodeling of the ER. Mut …
Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.
Zhu PP, Hung HF, Batchenkova N, Nixon-Abell J, Henderson J, Zheng P, Renvoisé B, Pang S, Xu CS, Saalfeld S, Funke J, Xie Y, Svara F, Hess HF, Blackstone C. Zhu PP, et al. Hum Mol Genet. 2022 Aug 23;31(16):2779-2795. doi: 10.1093/hmg/ddac072. Hum Mol Genet. 2022. PMID: 35348668 Free PMC article.
Common autosomal dominant HSPs are caused by mutations in genes encoding the microtubule-severing ATPase spastin (SPAST; SPG4), the membrane-bound GTPase atlastin-1 (ATL1; SPG3A) and the reticulon-like, microtubule-binding protein REEP1 (REEP1; SPG31). These protein …
Common autosomal dominant HSPs are caused by mutations in genes encoding the microtubule-severing ATPase spastin (SPAST; SPG4), the membrane …
The membrane curvature-inducing REEP1-4 proteins generate an ER-derived vesicular compartment.
Shibata Y, Mazur EE, Pan B, Paulo JA, Gygi SP, Chavan S, Valerio LSA, Zhang J, Rapoport TA. Shibata Y, et al. Nat Commun. 2024 Oct 5;15(1):8655. doi: 10.1038/s41467-024-52901-6. Nat Commun. 2024. PMID: 39368994 Free PMC article.
The endoplasmic reticulum (ER) is shaped by abundant membrane curvature-generating proteins that include the REEP family member REEP5. The REEP1 subfamily, consisting of four proteins in mammals (REEP1-4), is less abundant and lack a N-terminal region. ...Here we sh …
The endoplasmic reticulum (ER) is shaped by abundant membrane curvature-generating proteins that include the REEP family member REEP5. The …
A complete overview of REEP1: old and new insights on its role in hereditary spastic paraplegia and neurodegeneration.
Guglielmi A. Guglielmi A. Rev Neurosci. 2020 May 26;31(4):351-362. doi: 10.1515/revneuro-2019-0083. Rev Neurosci. 2020. PMID: 31913854 Review.
This review gives an overview of HSP pathologies and general insights to a specific HSP subtype called spastic paraplegia 31 (SPG31), which rises after mutation of REEP1 gene. In fact, recent findings discovered an interesting endoplasmic reticulum antistress function of …
This review gives an overview of HSP pathologies and general insights to a specific HSP subtype called spastic paraplegia 31 (SPG31), which …
A clinical and genetic study of SPG31 in Japan.
Hata T, Nan H, Koh K, Ishiura H, Tsuji S, Takiyama Y. Hata T, et al. J Hum Genet. 2022 Jul;67(7):421-425. doi: 10.1038/s10038-022-01021-4. Epub 2022 Feb 7. J Hum Genet. 2022. PMID: 35132160
SPG31 is an autosomal dominant hereditary spastic paraplegia caused by pathogenic variants in the receptor expression-enhancing protein 1 (REEP1) gene. We analyzed 488 DNA samples from unrelated HSP patients collected by Japan Spastic Paraplegia Research Consortium and fou …
SPG31 is an autosomal dominant hereditary spastic paraplegia caused by pathogenic variants in the receptor expression-enhancing protein 1 ( …
Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene.
Baggiani M, Santorelli FM, Mero S, Privitera F, Damiani D, Tessa A. Baggiani M, et al. Stem Cell Res. 2024 Sep;79:103472. doi: 10.1016/j.scr.2024.103472. Epub 2024 Jun 11. Stem Cell Res. 2024. PMID: 38889632 Free PMC article.
Among these HSPs, SPG31 is due to autosomal dominant mutations in the receptor expression-enhancing protein 1 (REEP1) gene. Over 80 genes have been associated with HSPs, and the list is constantly growing as research progresses. ...
Among these HSPs, SPG31 is due to autosomal dominant mutations in the receptor expression-enhancing protein 1 (REEP1) gene. Over 80 g …
Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature.
Panwala TF, Garcia-Santibanez R, Vizcarra JA, Garcia AG, Verma S. Panwala TF, et al. Pediatr Neurol. 2022 May;130:7-13. doi: 10.1016/j.pediatrneurol.2022.02.007. Epub 2022 Mar 3. Pediatr Neurol. 2022. PMID: 35303589 Review.
Genetically confirmed etiologies included SPAST (3 patients), MARS (2), KIF1A (2), KIF5A (1), SACS (1), SPG7 (1), REEP1 (1), PNPT1 (1), MT-ATP6 (1), and ATL1 (1). Symptom onset to genetic confirmation on an average was 8.2 years. ...
Genetically confirmed etiologies included SPAST (3 patients), MARS (2), KIF1A (2), KIF5A (1), SACS (1), SPG7 (1), REEP1 (1), PNPT1 (1 …
19 results