REEP1

Summary

Gene Symbol: REEP1
Description: receptor accessory protein 1
Alias: C2orf23, HMN5B, SPG31, Yip2a, receptor expression-enhancing protein 1, spastic paraplegia 31 protein
Species: human

Top Publications

  1. doi Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study
    Anne Kjersti Erichsen
    Department of Neurology, Ulleval University Hospital, Oslo, Norway
    Brain 132:1577-88. 2009
  2. pmc Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31
    Stephan Zuchner
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 79:365-9. 2006
  3. pmc REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31
    Christian Beetz
    Institute for Clinical Chemistry and Laboratory Diagnostics, University Hospital Jena, Germany
    Brain 131:1078-86. 2008
  4. pmc Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review
    Sebastien Richard
    aDepartment of Neurology, University Hospital of Nancy, Nancy bDepartment of Neurology, Hospital of Bar le Duc, Bar le Duc cCentre d Investigation Clinique Plurithématique CIC P 1433, Inserm U1116, University Hospital of Nancy, Vandoeuvre lès Nancy dLaboratory of Rare Diseases Genetic and Metabolism MRGM, University Hospital Pellegrin, Bordeaux eDepartment of Genetics, Pitie Salpetriere Hospital, Public Hospital Network of Paris, Paris, France
    Medicine (Baltimore) 96:e5911. 2017
  5. doi Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation
    Julie Lavie
    INSERM U1211, Laboratoire Maladies Rares Génétique et Métabolisme Hôpital Pellegrin, 33000 Bordeaux
    Hum Mol Genet . 2016
  6. pmc Olfactory Receptors in Non-Chemosensory Organs: The Nervous System in Health and Disease
    Isidro Ferrer
    Institute of Neuropathology, Bellvitge University Hospital, Hospitalet de Llobregat, University of BarcelonaBarcelona, Spain Center for Biomedical Research in Neurodegenerative Diseases CIBERNED Madrid, Spain Bellvitge Biomedical Research Institute IDIBELL, Hospitalet de LlobregatBarcelona, Spain
    Front Aging Neurosci 8:163. 2016
  7. doi A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings
    Alexandros A Polymeris
    First Department of Pediatrics, Aghia Sophia Children s Hospital, University of Athens, Thivon and Micras Asias, 11527, Athens, Greece
    J Neurol 263:1604-11. 2016
  8. doi Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients
    Ewelina Elert-Dobkowska
    Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
    J Neurol Sci 359:35-9. 2015
  9. pmc Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
    Seong H Park
    Cellular Neurology Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke NINDS, NIH, Bethesda, Maryland 20892 3738, USA
    J Clin Invest 120:1097-110. 2010
  10. doi Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses
    Hiroyuki Ishiura
    Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    J Hum Genet 59:163-72. 2014

Scientific Experts

  • Rosamaria Silipigni
  • J Finsterer
  • John K Fink
  • R Battini
  • A Tzschach
  • Stephan Zuchner
  • Katharina J Schlang
  • Adrian J L Clark
  • Yoshihisa Takiyama
  • Christian Beetz
  • Giovanni Stevanin
  • Craig Blackstone
  • Hiroyuki Ishiura
  • Alexandra Durr
  • Alexis Brice
  • Seong H Park
  • Julie Lavie
  • Paula Garcia-Esparcia
  • Carl M Hurt
  • Susann Björk
  • Cyril Goizet
  • Shoji Tsuji
  • Stephan Klebe
  • Ludger Schols
  • Rebecca Schule
  • Anne Kjersti Erichsen
  • Sebastien Richard
  • Benoît Renvoisé
  • Isidro Ferrer
  • Alexandros A Polymeris
  • Servi J C Stevens
  • Youngshin Lim
  • Idil Ulengin
  • Ewelina Elert-Dobkowska
  • Joanna M Solowska
  • Stefano Gustincich
  • Margarita Carmona
  • Yutaka Hashimoto
  • Julia Falk
  • Chikano Noda
  • Chiara Appocher
  • Timothy Angelotti
  • Giovanni Benard
  • Didier Lacombe
  • Vincent K Ho
  • Rodrigue Rossignol
  • Isabelle Coupry
  • Kishore R Kumar
  • José Leal Loureiro
  • S T de Bot
  • Jaerak Chang
  • Robin W Klemm
  • Gladys Montenegro
  • Richard Holt
  • Jun Goto
  • Maria Santa Rocca
  • Yuji Takahashi
  • Cecile Cazeneuve
  • Perrine Charles
  • Bertrand Fontaine
  • Christel Depienne
  • Estelle Fedirko
  • Guilhem Solé
  • D S McCorquodale
  • Thomas Deufel
  • Sylvie Forlani
  • Erwin Ilegems
  • Tine Deconinck
  • Nina A Schlipf
  • Peter De Jonghe
  • Chantal M E Tallaksen
  • Shi Guo Liu
  • Joanna Argasinska
  • Susanne Otto
  • Sven Klimpe
  • Channa Hewamadduma
  • Guo Hua Zhao
  • Maik Behrens
  • Harumi Saito
  • Guillaume Banneau
  • Marc Debouverie
  • Karine Lavandier
  • Nathalie Voirand
  • Gilles Courtand
  • Eleni Skouteli
  • Artemis D Gika
  • Alice Grison
  • Caroline Sibilla
  • Gabor G Kovacs
  • Eva Carro

Detail Information

Publications56

  1. doi Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study
    Anne Kjersti Erichsen
    Department of Neurology, Ulleval University Hospital, Oslo, Norway
    Brain 132:1577-88. 2009
    ..while those of the most common autosomal dominant-hereditary spastic paraplegia genotypes, SPG4, SPG3 and SPG31, were similar to those previously reported...
  2. pmc Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31
    Stephan Zuchner
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 79:365-9. 2006
    ..on chromosome 2p12, we identified six different mutations in the receptor expression-enhancing protein 1 gene (REEP1). REEP1 mutations occurred in 6...
  3. pmc REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31
    Christian Beetz
    Institute for Clinical Chemistry and Laboratory Diagnostics, University Hospital Jena, Germany
    Brain 131:1078-86. 2008
    Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31...
  4. pmc Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review
    Sebastien Richard
    aDepartment of Neurology, University Hospital of Nancy, Nancy bDepartment of Neurology, Hospital of Bar le Duc, Bar le Duc cCentre d Investigation Clinique Plurithématique CIC P 1433, Inserm U1116, University Hospital of Nancy, Vandoeuvre lès Nancy dLaboratory of Rare Diseases Genetic and Metabolism MRGM, University Hospital Pellegrin, Bordeaux eDepartment of Genetics, Pitie Salpetriere Hospital, Public Hospital Network of Paris, Paris, France
    Medicine (Baltimore) 96:e5911. 2017
    ..In depth diagnosis is based on clinical presentation and identification of genomic mutations. We describe the clinical presentation and pathogeny of HSP through a report of a case due to a novel mutation of the REEP1 gene (SPG31).
  5. doi Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation
    Julie Lavie
    INSERM U1211, Laboratoire Maladies Rares Génétique et Métabolisme Hôpital Pellegrin, 33000 Bordeaux
    Hum Mol Genet . 2016
    Hereditary spastic paraplegia, SPG31, is a rare neurological disorder caused by mutations in REEP1 gene encoding the microtubule-interacting protein, REEP1...
  6. pmc Olfactory Receptors in Non-Chemosensory Organs: The Nervous System in Health and Disease
    Isidro Ferrer
    Institute of Neuropathology, Bellvitge University Hospital, Hospitalet de Llobregat, University of BarcelonaBarcelona, Spain Center for Biomedical Research in Neurodegenerative Diseases CIBERNED Madrid, Spain Bellvitge Biomedical Research Institute IDIBELL, Hospitalet de LlobregatBarcelona, Spain
    Front Aging Neurosci 8:163. 2016
    ..subunit (Gαolf), OR transporters receptor transporter proteins 1 and 2 (RTP1 and RTP2), receptor expression enhancing protein 1 (REEP1), and UDP-glucuronosyltransferases (UGTs) are expressed in neurons of the human and murine ..
  7. doi A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings
    Alexandros A Polymeris
    First Department of Pediatrics, Aghia Sophia Children s Hospital, University of Athens, Thivon and Micras Asias, 11527, Athens, Greece
    J Neurol 263:1604-11. 2016
    ..Molecular analysis included whole exome sequencing (WES) or consecutive screening of candidate genes ATL1, SPAST, REEP1, and CYP7B1...
  8. doi Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients
    Ewelina Elert-Dobkowska
    Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
    J Neurol Sci 359:35-9. 2015
    ..Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs)..
  9. pmc Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
    Seong H Park
    Cellular Neurology Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke NINDS, NIH, Bethesda, Maryland 20892 3738, USA
    J Clin Invest 120:1097-110. 2010
    ..half of HSP cases result from autosomal dominant mutations in atlastin-1 (also known as SPG3A), receptor expression enhancing protein 1 (REEP1; SPG31), or spastin (SPG4)...
  10. doi Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses
    Hiroyuki Ishiura
    Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
    J Hum Genet 59:163-72. 2014
    ..genes of HSP (L1CAM, PLP1, ATL1, SPAST, CYP7B1, NIPA1, SPG7, KIAA0196, KIF5A, HSPD1, BSCL2, SPG11, SPG20, SPG21, REEP1 and ZFYVE27) using resequencing microarrays, array-based comparative genomic hybridization and Sanger sequencing...
  11. pmc Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia
    Yutaka Hashimoto
    From the Department of Molecular and Cellular Biology, Medical Institute of Bioregulation, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka, Fukuoka 812 8582, Japan
    J Biol Chem 289:12946-61. 2014
    ..interact with other HSP-related proteins including myelin proteolipid protein 1 (SPG2), atlastin-1 (SPG3A), REEP1 (SPG31), REEP5 (similar to REEP1), Kif5A (SPG10), Kif5B, Kif5C, and reticulon 1, 3, and 4 (similar to reticulon 2, SPG12)...
  12. pmc A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1
    Servi J C Stevens
    Department Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
    Eur J Hum Genet 23:543-6. 2015
    ..Their phenotype matches with that of previously described patients. The 2p11.2-2p12 deletion includes the REEP1 gene that is associated with spastic paraplegia and phenotypic features related to this are apparent in most 2p11...
  13. pmc Hereditary spastic paraplegia SPG4: what is known and not known about the disease
    Joanna M Solowska
    Department of Neurobiology and Anatomy, Drexel University College of Medicine, 2900 Queen Lane, Philadelphia, PA 19129, USA
    Brain 138:2471-84. 2015
    ..not shared by M87, may insert into endoplasmic reticulum membrane, and together with reticulons, atlastin and REEP1, may play a role in the morphogenesis of this organelle...
  14. doi Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation
    Benoît Renvoisé
    Cell Biology Section, Neurogenetics Branch
    Hum Mol Genet . 2016
    ..dominant forms are caused by mutations in genes that encode the spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31) proteins...
  15. ncbi A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia
    Guo Hua Zhao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China
    Chin Med J (Engl) 121:430-4. 2008
    ..Thirteen loci for autosomal dominant HSP have been mapped...
  16. pmc ER network formation and membrane fusion by atlastin1/SPG3A disease variants
    Idil Ulengin
    Department of Biological Sciences, Carnegie Mellon University, Pittsburgh, PA 15213
    Mol Biol Cell 26:1616-28. 2015
    ..The same variants were also capable of co-redistributing ER-localized REEP1, a recently identified function of atlastins that requires its catalytic activity...
  17. pmc REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues
    Carl M Hurt
    Department of Anesthesia CCM, Stanford University Medical School, Stanford, CA 94305, USA
    Brain Res 1545:12-22. 2014
    ..Interestingly, REEP1 mutations have been linked to neurodegenerative disorders of upper and lower motor neurons, hereditary spastic ..
  18. doi Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology
    Julia Falk
    Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany
    Hum Mutat 35:497-504. 2014
    ..Which of the many ER functions are pathologically relevant, however, remains to be determined. REEP1 is an ER protein mutated in hereditary spastic paraplegia (HSP) and hereditary motor neuropathy (HMN)...
  19. doi Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features
    Rosamaria Silipigni
    Laboratory of Medical Genetics, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy Electronic address
    Eur J Med Genet 59:39-42. 2016
    ..The common deleted region involves several genes (CTNNA2, LRRTM1, REEP1), highly expressed in the nervous system...
  20. pmc Valosin-containing protein-interacting membrane protein (VIMP) links the endoplasmic reticulum with microtubules in concert with cytoskeleton-linking membrane protein (CLIMP)-63
    Chikano Noda
    From the Department of Molecular Life Sciences, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192 0392 and
    J Biol Chem 289:24304-13. 2014
    ..Although VIMP can interact with CLIMP-63 and Syn5L, it does not interact with MT-binding ER proteins (such as Reep1) that shape the tubular smooth ER, suggesting that different sets of MT-binding ER proteins are used to organize ..
  21. doi Functional screening in Drosophila reveals the conserved role of REEP1 in promoting stress resistance and preventing the formation of Tau aggregates
    Chiara Appocher
    International Centre for Genetic Engineering and Biotechnology, Padriciano 99, Trieste 34149, Italy
    Hum Mol Genet 23:6762-72. 2014
    ..We found that the downregulation of the Drosophila REEP1 homolog protein enhanced Tau toxicity with increased formation of insoluble aggregates...
  22. doi [Japan Spastic Paraplegia Research Consortium (JASPAC)]
    Yoshihisa Takiyama
    Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi
    Brain Nerve 66:1210-7. 2014
    ..We are now performing molecular testing of the HSP patients using Sanger sequencing (SPG4, SPG11, SPG31, and ARSACS), comparative genomic hybridization (CGH) array (SPG1, 2, 3A, 4, 5, 6, 7, 8, 10, 11, 13, 15, 17, 20, ..
  23. ncbi [Hereditary spastic paraplegia: up to date]
    Yoshihisa Takiyama
    Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi
    Rinsho Shinkeigaku 54:1009-11. 2014
    ..families with autosomal dominant HSP, SPG4 was the most common form, accounting for 38%, followed by SPG3A (5%), SPG31 (5%), SPG10 (2%), and SPG8 (1%)...
  24. pmc Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts
    Youngshin Lim
    Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA
    Ann Neurol 78:679-96. 2015
    Mutations in receptor expression enhancing protein 1 (REEP1) are associated with hereditary spastic paraplegias (HSPs)...
  25. pmc REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity
    Susann Björk
    Department of Pharmacology, Drug Development and Therapeutics, Institute of Biomedicine, University of Turku, Turku, Finland Department of Anesthesia CCM, Stanford University Medical School, Stanford, California, United States of America
    PLoS ONE 8:e76366. 2013
    ..Most importantly, expression of a mutant REEP1 allele (hereditary spastic paraplegia SPG31) lacking the carboxyl terminus led to loss of this interaction...
  26. pmc Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
    Stephan Klebe
    INSERM, UMR_S975 CRICM, F 75013 Paris, France
    Brain 135:2980-93. 2012
    ..We screened 135 unrelated index cases, selected in five different settings: SPG7-positive patients detected during SPG31 analysis using SPG31/SPG7 multiplex ligation-dependent probe amplification (n = 7); previously reported ambiguous ..
  27. doi Functional genomics reveals dysregulation of cortical olfactory receptors in Parkinson disease: novel putative chemoreceptors in the human brain
    Paula Garcia-Esparcia
    Institut de Neuropatologia, IDIBELL Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain
    J Neuropathol Exp Neurol 72:524-39. 2013
    ..3 and olfactory G protein (Gαolf), OR transporters, receptor transporter proteins 1 and 2 and receptor expression enhancing protein 1, and OR xenobiotic removing UDP-glucuronosyltransferase 1 family polypeptide A6 are widely ..
  28. doi ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes
    S T de Bot
    Department of Neurology, Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Neurol 260:869-75. 2013
    ..In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families...
  29. pmc Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation
    Jaerak Chang
    Cell Biology Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 110:14954-9. 2013
    ..formation: atlastin-1 (SPG3A), spastin (SPG4), reticulon 2 (SPG12), and receptor expression-enhancing protein 1 (SPG31)...
  30. ncbi Molecular characterization of a senescence-associated gene encoding cysteine proteinase and its gene expression during leaf senescence in sweet potato
    Guan Hong Chen
    Institute of Biochemistry, School of Life Science, National Yang Ming University, Taipei, Taiwan
    Plant Cell Physiol 43:984-91. 2002
    The structure and expression of a senescence-associated gene (SPG31) encoding a cysteine proteinase precursor of sweet potato have been characterized...
  31. doi Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey
    José Leal Loureiro
    Servico de Neurologia, Centro Hospitalar Entre Douro e Vouga, Rua Dr Cândido de Pinho, 4520 211 Santa Maria da Feira, Portugal
    JAMA Neurol 70:481-7. 2013
    ..Mutations in 3 genes (SPG4, SPG3, and SPG31) are said to be the cause in half of the autosomal dominant HSPs (AD-HSPs)...
  32. pmc Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
    Gladys Montenegro
    Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
    J Clin Invest 122:538-44. 2012
    ..genes encoding proteins that work together to shape the ER into sheets and tubules - receptor accessory protein 1 (REEP1), atlastin-1 (ATL1), and spastin (SPAST) - have been found to underlie many cases of HSP in Northern Europe and ..
  33. pmc CNVs leading to fusion transcripts in individuals with autism spectrum disorder
    Richard Holt
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Eur J Hum Genet 20:1141-7. 2012
    ..Accordingly, a duplication involving REEP1-POLR1A (found in 3/996 cases and 0/1287 controls) and a single occurrence CNV involving KIAA0319-TDP2 were tested...
  34. pmc Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V
    Christian Beetz
    Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Germany
    Am J Hum Genet 91:139-45. 2012
    ..e., a splice-site alteration in REEP1 (c.304-2A>G)...
  35. pmc Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms
    John K Fink
    Department of Neurology, University of Michigan and Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, 5014 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI 48109 2200, USA
    Acta Neuropathol 126:307-28. 2013
    ..g. SPG3A/Atlastin, SPG4/Spastin, SPG12/reticulon 2, and SPG31/REEP1, all of which interact); (3) mitochondrial function (e.g...
  36. doi Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
    Josef Finsterer
    Krankenanstalt Rudolfstiftung, Wien, Austria
    J Neurol Sci 318:1-18. 2012
    ..more rarely involved (NIPA1 (SPG6), KIAA0196 (SPG8), KIF5A (SPG10), RNT2 (SPG12), SPGD1 (SPG13), BSCL2 (SPG17), REEP1 (SPG31), ZFYVE27 (SPG33, debated), and SLC33A1 (SPG42, debated))...
  37. doi Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia
    Kishore R Kumar
    Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, Pacific Hwy, St Leonards, Sydney, NSW, 2065, Australia
    J Neurol 260:2516-22. 2013
    ..Several forms of HSP were identified, including one patient with SPG31, four with SPG7 (with one novel SPG7 mutation) and two with SPG5 (including two novel CYP7B1 frameshift mutations)...
  38. ncbi [Hereditary spastic paraplegia in Japan]
    Yoshihisa Takiyama
    Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi
    Rinsho Shinkeigaku 51:1125-8. 2011
    ..In 148 Japanese ADHSP families, SPG4 was the most common form, accounting for 47%, followed by SPG31 (4%), SPG3A (3%), SPG8 (1%), and SPG10 (1%)...
  39. pmc A conserved role for atlastin GTPases in regulating lipid droplet size
    Robin W Klemm
    Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA
    Cell Rep 3:1465-75. 2013
    ..In mammalian cells, co-overexpression of atlastin-1 and REEP1, a paralog of the ER tubule-shaping protein DP1/REEP5, generates large LDs...
  40. ncbi RTP family members induce functional expression of mammalian odorant receptors
    Harumi Saito
    Department of Molecular Genetics and Microbiology, Duke University Medical Center, Research Drive, Durham, NC 27710, USA
    Cell 119:679-91. 2004
    ..Similar although weaker effects were seen with a third protein, REEP1. These findings suggest that RTP1 and RTP2 in particular play significant roles in the translocation of ORs to the ..
  41. ncbi Inherited ACTH insensitivity illuminates the mechanisms of ACTH action
    Adrian J L Clark
    Department of Endocrinology, Barts and The London, Queen Mary, University of London, West Smithfield, London EC1M 6BQ, UK
    Trends Endocrinol Metab 16:451-7. 2005
    ..Molecular defects underlying other causes of ACTH insensitivity syndromes will probably contribute further to our understanding of these pathways...
  42. ncbi Members of RTP and REEP gene families influence functional bitter taste receptor expression
    Maik Behrens
    Department of Molecular Genetics, German Institute of Human Nutrition Potsdam Rehbruecke, Arthur Scheunert Allee 114 116, 14558 Nuthetal, Germany
    J Biol Chem 281:20650-9. 2006
    ..Finally, expression analyses demonstrate RTP and REEP gene expression in human circumvallate papillae and testis, both of which are sites of TAS2R gene expression...
  43. pmc Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31)
    Katharina J Schlang
    Department of Human Genetics, Ruhr University, 44801 Bochum, Germany
    BMC Med Genet 9:71. 2008
    ..Recently, mutations in the REEP1 gene were identified to cause autosomal dominant HSP type SPG31...
  44. doi New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)
    Channa Hewamadduma
    The Academic Neurology Unit, Section of Neuroscience, Medical School, University of Sheffield, Sheffield, UK
    Neurogenetics 10:105-10. 2009
    ..Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP ..
  45. doi Clinical and genetic study of a novel mutation in the REEP1 gene
    Shi Guo Liu
    Postgraduate School, Peking Union Medical College, Dong Cheng, Beijing
    Synapse 63:201-5. 2009
    ..To examine the gene mutation associated with clinical phenotype from a Chinese kindred with autosomal dominant hereditary spastic paraplegia (ADHSP)...
  46. doi Loss of REEP4 causes paralysis of the Xenopus embryo
    Joanna Argasinska
    Wellcome Trust Cancer Research UK Gurdon Institute, Department of Zoology, University of Cambridge, Cambridge, U K
    Int J Dev Biol 53:37-43. 2009
    ..Consistent with the presence of this domain, REEP1 and REEP3 enhance the expression of odorant and taste receptors in mammals, while mutation of these genes causes ..
  47. doi Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature
    Andreas Tzschach
    Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Med Genet A 149:242-5. 2009
    ..Among the 40 known genes deleted in our patient is REEP1, haploinsufficiency of which causes autosomal dominant spastic paraplegia type 31 (SPG31, OMIM 610250)...
  48. pmc A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
    Nina A Schlipf
    Department of Medical Genetics, Institute of Human Genetics, Tubingen, Germany
    Eur J Hum Genet 18:1065-7. 2010
    ..As our sample represents ADHSP patients for whom SPAST mutations and almost in all cases ATL1 and REEP1 mutations had been excluded, we consider SLC33A1 gene mutations as being very rare in a European ADHSP cohort, if ..
  49. doi Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia
    R Battini
    Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy
    Eur J Neurol 18:150-7. 2011
    ..b>SPG31 is more often associated with a pure spastic paraplegia phenotype, but genotype-phenotype correlation is still ..
  50. pmc Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia
    D S McCorquodale
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA
    Clin Genet 79:523-30. 2011
    ..Mutations in the genes atlastin, spastin and REEP1 are estimated to account for up to 50% of autosomal-dominant HSP and currently guide the molecular diagnosis of ..
  51. pmc REEP2 enhances sweet receptor function by recruitment to lipid rafts
    Erwin Ilegems
    The Rolf Luft Research Center for Diabetes and Endocrinology, Karolinska Institutet, Karolinska Hospital, Stockholm, Sweden
    J Neurosci 30:13774-83. 2010
    ..In contrast to the observation that RTP1, RTP2, and REEP1 enhance function of olfactory receptors by promoting their transit to the cell surface, we found that REEP2 does ..
  52. doi REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
    Cyril Goizet
    Université Bordeaux Segalen, Laboratoire Maladies Rares Génétique et Métabolisme, Bordeaux, France
    Hum Mutat 32:1118-27. 2011
    ..Mutations in REEP1 were recently associated with a pure dominant HSP, SPG31. We sequenced all exons of REEP1 and searched for rearrangements by multiplex ligation-dependent probe ..
  53. ncbi [Japan spastic paraplegia research consortium (JASPAC)]
    Yoshihisa Takiyama
    Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi
    Rinsho Shinkeigaku 50:931-4. 2010
    ..We are now performing molecular testing for the HSP patients using direct sequencing (SPG4, SPG31, and ARSACS), comparative genomic hybridization (CGH) array (SPG1/2/3A/4/5/6/7/8/10/11/13/15/17/20/21/31/33/39/42/..
  54. doi Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12
    Maria Santa Rocca
    Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy
    Gene 492:315-8. 2012
    ..The deleted region encompasses over 40 known genes, including LRRTM1, CTNNA2 and REEP1, haploinsufficiency of which could explain some clinical features of this patient such as mental retardation, ..

Research Grants6

  1. Molecular And Genetic Analysis Of Autosomal Dominant Spastic Paraplegia
    Stephan Zuchner; Fiscal Year: 2011
    ..Recently we have identified the underlying gene for the SPG31 locus, receptor expression enhancing protein 1 (REEP1), which appears to represent 6...
  2. International Symposium for Hereditary Spastic Paraplegia
    John Fink; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  3. HEREDITARY SPASTIC PARAPLEGIA--CLINICAL, HISTOCHEMICAL,
    John Fink; Fiscal Year: 2001
    ..abstract_text> ..
  4. Hereditary Spastic Paraplegia due to SPG3A/atlastin mutation
    John Fink; Fiscal Year: 2009
    ....