| 1 | ATP10A, REEP1, UBE3A
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| Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis
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| Aguilera-Albesa S, de la Hoz AB, Ibarluzea N, Ordóñez-Castillo AR, Busto-Crespo O, Villate O, Ibiricu-Yanguas MA, Yoldi-Petri ME, García de Gurtubay I, Perez de Nanclares G, Pereda A, Tejada MI.
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| Front Neurol. Feb 14;11:41. doi: 10.3389/fneur.2020.00041. 2020
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| 2 | REEP1
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| Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.
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| Lim Y, Cho IT, Schoel LJ, Cho G, Golden JA.
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| Ann Neurol 78(5):679-96. doi: 10.1002/ana.24488. Epub 2015 Sep 16.
2015
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| 3 | REEP1, REEP2
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| REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.
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| Hurt CM, Björk S, Ho VK, Gilsbach R, Hein L, Angelotti T.
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| Brain Res. 1545:12-22 2014
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| 4 | CKAP4, REEP1, SELENOS, SNX5
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| Valosin-containing protein-interacting membrane protein (VIMP) links the endoplasmic reticulum with microtubules in concert with cytoskeleton-linking membrane protein (CLIMP)-63.
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| Noda C, Kimura H, Arasaki K, Matsushita M, Yamamoto A, Wakana Y, Inoue H, Tagaya M.
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| J Biol Chem 289(35):24304-13. doi: 10.1074/jbc.M114.571372. Epub 2014 Jul 9. 2014
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| 5 | ATL, KIF5A, KIF5B, KIF5C, PLP1, REEP1, REEP5, ZFYVE27
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| Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia.
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| Hashimoto Y, Shirane M, Matsuzaki F, Saita S, Ohnishi T, Nakayama KI.
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| J Biol Chem 289(19):12946-61. doi: 10.1074/jbc.M113.528687. Epub 2014 Mar 25.
2014
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| 6 | REEP1
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| Functional screening in Drosophila reveals the conserved role of REEP1 in promoting stress resistance and preventing the formation of Tau aggregates.
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| Appocher C, Klima R, Feiguin F.
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| Hum Mol Genet 23(25):6762-72. doi: 10.1093/hmg/ddu393. Epub 2014 Aug 5.
2014
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| 7 | REEP1
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| Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.
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| Falk J, Rohde M, Bekhite MM, Neugebauer S, Hemmerich P, Kiehntopf M, Deufel T, Hübner CA, Beetz C.
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| Hum Mutat 35(4):497-504. doi: 10.1002/humu.22521. Epub 2014 Mar 5.
2014
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| 8 | REEP1, REEP2, REEP3, REEP4, REEP5, REEP6
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| REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity.
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| Björk S, Hurt CM, Ho VK, Angelotti T.
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| PLoS One 8(10):e76366. doi: 10.1371/journal.pone.0076366. eCollection 2013. Erratum in: PLoS One. 2013;8(12). doi:10.1371/annotation/6f86 2013
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| 9 | ATL1, REEP1
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| A conserved role for atlastin GTPases in regulating lipid droplet size.
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| Klemm RW, Norton JP, Cole RA, Li CS, Park SH, Crane MM, Li L, Jin D, Boye-Doe A, Liu TY, Shibata Y, Lu H, Rapoport TA, Farese RV Jr, Blackstone C, Guo Y, Mak HY.
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| Cell Rep 3(5):1465-75. doi: 10.1016/j.celrep.2013.04.015. Epub 2013 May 16.
2013
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| 10 | REEP1, SPG31
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| Enhanced reticulospinal output in patients with (REEP1) hereditary spastic paraplegia type 31.
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| Fisher KM, Chinnery PF, Baker SN, Baker MR.
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| J Neurol 260(12):3182-4. doi: 10.1007/s00415-013-7178-6. Epub 2013 Nov 13. No abstract available.
2013
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| 11 | DHMN5B, REEP1
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| Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V.
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| Beetz C, Pieber TR, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M.
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| Am J Hum Genet 91(1):139-45. Epub 2012 Jun 14.
2012
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| 12 | REEP1, SPG31
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| REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
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| Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G.
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| Hum Mutat 32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9.
2011
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| 13 | ATL1, REEP1, SPAST, SPG3A
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| Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
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| Park SH, Zhu PP, Parker RL, Blackstone C.
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| J Clin Invest 120(4):1097-110.PMID: 20200447 2010
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| 14 | ATL1, REEP1, SPAST
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| Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
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| Park SH, Zhu PP, Parker RL, Blackstone C.
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| J Clin Invest 120(4):1097-110. doi: 10.1172/JCI40979.
2010
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| 15 | REEP1, SPG31
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| Clinical and genetic study of a novel mutation in the REEP1 gene.
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| Liu SG, Che FY, Heng XY, Li FF, Huang SZ, Lu de G, Hou SJ, Liu SE, Wang Q, Wang HP, Ma X.
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| Synapse 63(3):201-5.PMID: 19072839 2009
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| 16 | REEP1, SPG31
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| New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).
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| Hewamadduma C, McDermott C, Kirby J, Grierson A, Panayi M, Dalton A, Rajabally Y, Shaw P.
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| Neurogenetics 10(2):105-10. Epub 2008 Nov 26.PMID: 19034539 2009
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| 17 | REEP1, SPG31
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| REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
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| Beetz C, Schüle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schöls L, de Jonghe P, Züchner S.
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| Brain 131(Pt 4):1078-86. Epub 2008 Mar 5. 2008
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| 18 | REEP1, SPG31
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| Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
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| Schlang KJ, Arning L, Epplen JT, Stemmler S.
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| BMC Med Genet 9:71.PMID: 18644145 2008
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| 19 | REEP1, MAT2A, TGOLN2, SPG31
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| Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
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| Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA.
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| Am J Hum Genet 79(2):365-9. Epub 2006 May 26. 2006
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| 20 | REEP1, REEP2, REEP3, REEP4, REEP6, RTP3, RTP4
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| RTP family members induce functional expression of mammalian odorant receptors.
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| Saito H, Kubota M, Roberts RW, Chi Q, Matsunami H.
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| Cell 119(5):679-91. 2004
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