Erratum: A spastic paraplegia mouse model reveals REEP1-dependent ER shaping (Journal of Clinical Investigation (2014) 123:10 (4273-4282) DOI: 10.1172/JCI65665));A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

Journal of Clinical Investigation

Volumn 123, Issue 10, 2013, Pages 4273-4282

  Beetz, Christian ^a   Koch, Nicole ^a   Khundadze, Mukhran ^a   Zimmer, Geraldine ^a   Nietzsche, Sandor ^a   Hertel, Nicole ^a   Huebner, Antje Kathrin ^a   Mumtaz, Rizwan ^a   Schweizer, Michaela ^b   Dirren, Elisabeth ^c   Karle, Kathrin N ^d   Irintchev, Andrey ^a   Alvarez, Victoria ^e   Redies, Christoph ^a   Westermann, Martin ^a   Kurth, Ingo ^a   Deufel, Thomas ^a   Kessels, Michael M ^a   Qualmann, Britta ^a   Hübner, Christian A ^a  

^a JENA UNIVERSITY HOSPITAL   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c EPFL   (Switzerland)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; REEP1 PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; REEP1 PROTEIN, HUMAN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; EXON; GAIT DISORDER; GENE; GENE DELETION; GENE LOCUS; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; MEMBRANE BINDING; MOTONEURON; MOUSE MODEL; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SPG31 GENE; 129 MOUSE; ANIMAL; C57BL MOUSE; CELL MEMBRANE; CHEMISTRY; GAIT; GENETICS; HUMAN; METABOLISM; MOLECULAR GENETICS; MOUSE; NUCLEOTIDE SEQUENCE; PATHOLOGY; SPINAL CORD; TRANSGENIC MOUSE; TRANSMISSION ELECTRON MICROSCOPY;

ANIMALS; BASE SEQUENCE; CELL MEMBRANE; ENDOPLASMIC RETICULUM; EXONS; GAIT; HUMANS; MEMBRANE TRANSPORT PROTEINS; MICE; MICE, 129 STRAIN; MICE, INBRED C57BL; MICE, TRANSGENIC; MICROSCOPY, ELECTRON, TRANSMISSION; MOLECULAR SEQUENCE DATA; MOTOR NEURONS; SEQUENCE DELETION; SPASTIC PARAPLEGIA, HEREDITARY; SPINAL CORD;

EID: 84885072054     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI76634     Document Type: Erratum

References (43)

1. Goldberg JL. How does an axon grow? Genes Dev. 2003;17(8):941-958.
2. Zuchner S, Vance JM. Emerging pathways for hereditary axonopathies. J Mol Med. 2005;83(12):935-943.
3. Harding AE. Hereditary spastic paraplegias. Semin Neurol. 1993;13(4):333-336.
4. Schule R, Schols L. Genetics of hereditary spastic paraplegias. Semin Neurol. 2011;31(5):484-493.
5. Blackstone C. Cellular pathways of hereditary spastic paraplegia. Annu Rev Neurosci. 2012;35:25-47.
6. Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008;7(12):1127-1138.
7. Blackstone C, O'Kane CJ, Reid E. Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci. 2011;12(1):31-42.
8. Zuchner S, et al. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006;79(2):365-369.
9. Beetz C, et al. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain. 2008;131(4):1078-1086.
10. Goizet C, et al. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat. 2011;32(10):1118-1127.
11. Park SH, Zhu PP, Parker RL, Blackstone C. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J Clin Invest. 2010;120(4):1097-1110.
12. Bauer M, Pelkmans L. A new paradigm for membrane-organizing and-shaping scaffolds. FEBS Lett. 2006;580(23):5559-5564.
13. Shibata Y, et al. The reticulon and DP1/Yop1p proteins form immobile oligomers in the tubular endoplasmic reticulum. J Biol Chem. 2008;283(27):18892-18904.
14. Hu J, et al. Membrane proteins of the endoplasmic reticulum induce high-curvature tubules. Science. 2008;319(5867):1247-1250.
15. Shibata Y, Shemesh T, Prinz WA, Palazzo AF, Kozlov MM, Rapoport TA. Mechanisms determining the morphology of the peripheral ER. Cell. 2010;143(5):774-788.
16. Voeltz GK, Prinz WA, Shibata Y, Rist JM, Rapoport TA. A class of membrane proteins shaping the tubular endoplasmic reticulum. Cell. 2006;124(3):573-586.
17. Zurek N, Sparks L, Voeltz G. Reticulon short hairpin transmembrane domains are used to shape ER tubules. Traffic. 2011;12(1):28-41.
18. Dawson TR, Lazarus MD, Hetzer MW, Wente SR. ER membrane-bending proteins are necessary for de novo nuclear pore formation. J Cell Biol. 2009;184(5):659-675.
19. Ferreirinha F, et al. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest. 2004;113(2):231-242.
20. Pirozzi M, et al. Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia. J Clin Invest. 2006;116(1):202-208.
21. Beetz C, et al. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012;91(1):139-145.
22. Azzouz M, Leclerc N, Gurney M, Warter JM, Poindron P, Borg J. Progressive motor neuron impairment in an animal model of familial amyotrophic lateral sclerosis. Muscle Nerve. 1997;20(1):45-51.
23. Saito H, Kubota M, Roberts RW, Chi Q, Matsunami H. RTP family members induce functional expression of mammalian odorant receptors. Cell. 2004;119(5):679-691.
24. Wong DH, Brodsky FM. 100-kD proteins of Golgiand trans-Golgi network-associated coated vesicles have related but distinct membrane binding properties. J Cell Biol. 1992;117(6):1171-1179.
25. Hazan J, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet. 1999;23(3):296-303.
26. Fink JK. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep. 2006;6(1):65-76.
27. Shibata Y, Hu J, Kozlov MM, Rapoport TA. Mechanisms shaping the membranes of cellular organelles. Annu Rev Cell Dev Biol. 2009;25:329-354.
28. Friedman JR, Voeltz GK. The ER in 3D: a multifunctional dynamic membrane network. Trends Cell Biol. 2011;21(12):709-717.
29. O'Sullivan NC, Jahn TR, Reid E, O'Kane CJ. Reticulon-like-1, the Drosophila orthologue of the hereditary spastic paraplegia gene reticulon 2, is required for organization of endoplasmic reticulum and of distal motor axons. Hum Mol Genet. 2012;21(15):3356-3365.
30. Hu J, et al. A class of dynamin-like GTPases involved in the generation of the tubular ER network. Cell. 2009;138(3):549-561.
31. Orso G, et al. Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. Nature. 2009;460(7258):978-983.
32. Montenegro G, et al. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest. 2012;122(2):538-544.
33. Alvarez V, et al. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. BMC Neurol. 2010;10:89.
34. Hentschke M, et al. Mice with a targeted disruption of the Cl-/HCO3-exchanger AE3 display a reduced seizure threshold. Mol Cell Biol. 2006;26(1):182-191.
35. Schwintzer L, Koch N, Ahuja R, Grimm J, Kessels MM, Qualmann B. The functions of the actin nucleator Cobl in cellular morphogenesis critically depend on syndapin I. EMBO J. 2011;30(15):3147-3159.
36. Irintchev A, Simova O, Eberhardt KA, Morellini F, Schachner M. Impacts of lesion severity and tyrosine kinase receptor B deficiency on functional outcome of femoral nerve injury assessed by a novel single-frame motion analysis in mice. Eur J Neurosci. 2005;22(4):802-808.
37. Apostolova I, Irintchev A, Schachner M. Tenascin-R restricts posttraumatic remodeling of motoneuron innervation and functional recovery after spinal cord injury in adult mice. J Neurosci. 2006;26(30):7849-7859.
38. Poet M, et al. Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proc Natl Acad Sci U S A. 2006;103(37):13854- 13859.
39. Hubner CA, Lorke DE, Hermans-Borgmeyer I. Expression of the Na-K-2Cl-cotransporter NKCC1 during mouse development. Mech Dev. 2001;102(1-2):267-269.
40. Karle KN, Mockel D, Reid E, Schols L. Axonal transport deficit in a KIF5A-/-mouse model. Neurogenetics. 2012;13(2):169-179.
41. Sinning A, Liebmann L, Kougioumtzes A, Westermann M, Bruehl C, Hubner CA. Synaptic glutamate release is modulated by the Na+-driven Cl-/HCO3-exchanger Slc4a8. J Neurosci. 2011;31(20):7300-7311.
42. Koch N, Dharmalingam E, Westermann M, Qualmann B, Thomas U, Kessels MM. Abp1 utilizes the Arp2/3 complex activator Scar/WAVE in bristle development. J Cell Sci. 2012;125(15):3578-3589.
43. Reeves JP, Dowben RM. Formation and properties of thin-walled phospholipid vesicles. J Cell Physiol. 1969;73(1):49-60.