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1993 1
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118 results

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Page 1
Converging Role for REEP1/SPG31 in Oxidative Stress.
Naef V, Meschini MC, Tessa A, Morani F, Corsinovi D, Ogi A, Marchese M, Ori M, Santorelli FM, Doccini S. Naef V, et al. Int J Mol Sci. 2023 Feb 9;24(4):3527. doi: 10.3390/ijms24043527. Int J Mol Sci. 2023. PMID: 36834939 Free PMC article.
Mitochondrial dysfunctions have been observed in patients harboring pathogenic variants in REEP1, suggesting a key role of bioenergetics in disease-related manifestations. ...Together with mitochondrial morphology abnormalities, loss-of-REEP1 expression highlighted …
Mitochondrial dysfunctions have been observed in patients harboring pathogenic variants in REEP1, suggesting a key role of bioenerget …
REEP1 Preserves Motor Function in SOD1(G93A) Mice by Improving Mitochondrial Function via Interaction with NDUFA4.
Qin S, You P, Yu H, Su B. Qin S, et al. Neurosci Bull. 2023 Jun;39(6):929-946. doi: 10.1007/s12264-022-00995-7. Epub 2022 Dec 15. Neurosci Bull. 2023. PMID: 36520405
We found the expression of REEP1 was greatly reduced in transgenic SOD1(G93A) mice with ALS. ...The neuromuscular synaptic loss, gliosis, and even motor neuron loss in SOD1(G93A) mice were alleviated by increased REEP1 through augmentation of mitochondrial function. …
We found the expression of REEP1 was greatly reduced in transgenic SOD1(G93A) mice with ALS. ...The neuromuscular synaptic loss, glio …
Hereditary Spastic Paraplegia Overview.
Hedera P. Hedera P. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301682 Free Books & Documents. Review.
Potential role of mitochondria-associated endoplasmic reticulum membrane proteins in diseases.
Mao H, Chen W, Chen L, Li L. Mao H, et al. Biochem Pharmacol. 2022 May;199:115011. doi: 10.1016/j.bcp.2022.115011. Epub 2022 Mar 18. Biochem Pharmacol. 2022. PMID: 35314166 Review.
A large number of studies indicate that many proteins are involved in the formation of MAMs, including dynamic-related protein 1 (Drp1), DJ-1, PTEN-induced putative kinase 1 (PINK), alpha-synuclein (alpha-syn), sigma-1 receptor (S1R), mitofusin-2 (Mfn2), presenilin-1 (PS1), prote …
A large number of studies indicate that many proteins are involved in the formation of MAMs, including dynamic-related protein 1 (Drp1), DJ- …
Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.
Ma X, He J, Liu X, Fan D. Ma X, et al. Front Neurol. 2020 Jun 23;11:499. doi: 10.3389/fneur.2020.00499. eCollection 2020. Front Neurol. 2020. PMID: 32655478 Free PMC article.
Background: REEP1 is a common cause of autosomal dominant hereditary spastic paraplegia (HSP) but is rare in China. ...The proband family members were also screened for variants for the segregation analysis. All previously reported REEP1 mutations and cases were rev …
Background: REEP1 is a common cause of autosomal dominant hereditary spastic paraplegia (HSP) but is rare in China. ...The proband fa …
REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.
Hurt CM, Björk S, Ho VK, Gilsbach R, Hein L, Angelotti T. Hurt CM, et al. Brain Res. 2014 Jan 30;1545:12-22. doi: 10.1016/j.brainres.2013.12.008. Epub 2013 Dec 16. Brain Res. 2014. PMID: 24355597 Free PMC article.
To more fully examine REEP1 expression, we developed and characterized a new REEP1 monoclonal antibody for both immunoblotting and immunofluorescent microscopic analysis. ...Gene expression microarray analysis demonstrated REEP1 and REEP2 mRNA expression in s …
To more fully examine REEP1 expression, we developed and characterized a new REEP1 monoclonal antibody for both immunoblotting …
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 …
Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.
Lim Y, Cho IT, Schoel LJ, Cho G, Golden JA. Lim Y, et al. Ann Neurol. 2015 Nov;78(5):679-96. doi: 10.1002/ana.24488. Epub 2015 Sep 16. Ann Neurol. 2015. PMID: 26201691 Free PMC article.
We sought to resolve the cellular localization of REEP1 and further elucidate the pathobiology underlying REEP1 mutations in patients. ...Knockdown of Reep1 and expression of pathological Reep1 mutations resulted in neuritic growth defects and degenera …
We sought to resolve the cellular localization of REEP1 and further elucidate the pathobiology underlying REEP1 mutations in p …
The ortholog of human REEP1-4 is required for autophagosomal enclosure of ER-phagy/nucleophagy cargos in fission yeast.
Zou CX, Ma ZH, Jiang ZD, Pan ZQ, Xu DD, Suo F, Shao GC, Dong MQ, Du LL. Zou CX, et al. PLoS Biol. 2023 Nov 8;21(11):e3002372. doi: 10.1371/journal.pbio.3002372. eCollection 2023 Nov. PLoS Biol. 2023. PMID: 37939137 Free PMC article.
Through an imaging-based screen, we find that in the fission yeast Schizosaccharomyces pombe, Yep1 (also known as Hva22 or Rop1), the ortholog of human REEP1-4, is essential for ER-phagy and nucleophagy but not for bulk autophagy. ...We find that the ER-phagy role of Yep1 …
Through an imaging-based screen, we find that in the fission yeast Schizosaccharomyces pombe, Yep1 (also known as Hva22 or Rop1), the orthol …
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
118 results