The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
SNX27 dysfunction is implicated in neurodegeneration and Down's syndrome, which greatly increases the risk for developing Alzheimer's disease.
“Importantly, SNX27 dysfunction is implicated in neurodegeneration and Down's syndrome, which greatly increases the risk for developing Alzheimer's disease [63][64][65].”
From Global identification of neuronal and astrocytic integral membrane proteins that require Retromer for their endosomal recycling (2026) · cites this paper as [63]
The Discussion reports that reduced SNX27 expression contributes to synaptic dysfunction in Down’s syndrome, and the paper describes an SNX27 defect associated with infantile neurodegeneration. It discusses Alzheimer’s disease in relation to retromer dysfunction, but does not state that Down’s syndrome greatly increases the risk of developing Alzheimer’s disease. (LLM, conf=0.87)
Experimental — accuracy not yet measuredSNX27 mutations in humans have been linked to epileptic seizures.
“SNX27 mutations in humans have been linked to epileptic seizures [63,64].”
From Global identification of neuronal and astrocytic integral membrane proteins that require Retromer for their endosomal recycling (2026) · cites this paper as [63]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Regulation of AMPA receptor trafficking and synaptic plasticity
Anggono, V., & Huganir, R. L. (2012) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2011.12.006 · Cited by 588 · cited 3×
“Modulating the number and activity of synaptic AMPA-Rs contributes to the activity-dependent plasticity of the synapse that is argued to contribute to learning and memory (reviewed in [1]).”
InfluentialRetromer: A Master Conductor of Endosome Sorting
Burd, C., & Cullen, P. J. (2014) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016774 · Cited by 435
Self-citationVPS35 haploinsufficiency increases Alzheimer’s disease neuropathology
Wen, L., Tang, F.-L., Hong, Y., Luo, S.-W., Wang, C.-L., He, W., Shen, C., Jung, J.-U., Xiong, F., Lee, D.-H., et al. (2011) · Journal of Cell Biology · doi:10.1083/jcb.201105109 · Cited by 270
Muhammad, A., Flores, I., Zhang, H., Yu, R., Staniszewski, A., Planel, E., Herman, M., Ho, L., Kreber, R., Honig, L. S., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0802545105 · Cited by 248
Freeman, C., Seaman, M. N. J., & Reid, E. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.10.011 · Cited by 50
Flagged first, then by citations
Research works printed but not linked: 52
- Huotari J, Helenius A (2011) Endosome maturation. EMBO J 30(17):3481–3500. doi: 10.1038/emboj.2011.286 · DOI
- Kerr MC, Bennetts JS, Simpson F, Thomas EC, Flegg C, Gleeson PA, Wicking C, Teasdale RD (2005) A novel mammalian retromer component, Vps26B. Traffic 6(11):991–1001. doi: 10.1111/j.1600-0854.2005.00328.x · DOI · Paper page
- Seaman MN, McCaffery JM, Emr SD (1998) A membrane coat complex essential for endosome-to-Golgi retrograde transport in yeast. J Cell Biol 142(3):665–681 · DOI · Paper page
- Arighi CN, Hartnell LM, Aguilar RC, Haft CR, Bonifacino JS (2004) Role of the mammalian retromer in sorting of the cation-independent mannose 6-phosphate receptor. J Cell Biol 165(1):123–133. doi: 10.1083/jcb.200312055 · DOI · Paper page
- Carlton J, Bujny M, Peter BJ, Oorschot VM, Rutherford A, Mellor H, Klumperman J, McMahon HT, Cullen PJ (2004) Sorting nexin-1 mediates tubular endosome-to-TGN transport through coincidence sensing of high- curvature membranes and 3-phosphoinositides. Curr Biol: CB 14(20):1791–1800. doi: 10.1016/j.cub.2004.09.077 · DOI · Paper page
- Chen D, Xiao H, Zhang K, Wang B, Gao Z, Jian Y, Qi X, Sun J, Miao L, Yang C (2010) Retromer is required for apoptotic cell clearance by phagocytic receptor recycling. Science 327(5970):1261–1264. doi: 10.1126/science.1184840 · DOI
- Seaman MN (2004) Cargo-selective endosomal sorting for retrieval to the Golgi requires retromer. J Cell Biol 165(1):111–122. doi: 10.1083/jcb.200312034 · DOI · Paper page
- Temkin P, Lauffer B, Jager S, Cimermancic P, Krogan NJ, von Zastrow M (2011) SNX27 mediates retromer tubule entry and endosome-to-plasma membrane trafficking of signalling receptors. Nat Cell Biol 13(6):715–721. doi: 10.1038/ncb2252 · DOI · Paper page
- Cullen PJ, Korswagen HC (2012) Sorting nexins provide diversity for retromer-dependent trafficking events. Nat Cell Biol 14(1):29–37. doi: 10.1038/ncb2374 · DOI · Paper page
- Seaman MN, Gautreau A, Billadeau DD (2013) Retromer-mediated endosomal protein sorting: all WASHed up! Trends Cell Biol 23(11):522–528. doi: 10.1016/j.tcb.2013.04.010 · DOI
- Fjorback AW, Seaman M, Gustafsen C, Mehmedbasic A, Gokool S, Wu C, Militz D, Schmidt V, Madsen P, Nyengaard JR, Willnow TE, Christensen EI, Mobley WB, Nykjaer A, Andersen OM (2012) Retromer binds the FANSHY sorting motif in SorLA to regulate amyloid precursor protein sorting and processing. J Neurosci: Off J Soc Neurosci 32(4):1467–1480. doi: 10.1523/JNEUROSCI. 2272-11.2012 · DOI · Paper page
- Seaman MN (2007) Identification of a novel conserved sorting motif required for retromer-mediated endosome-to-TGN retrieval. J Cell Sci 120(Pt 14):2378–2389. doi: 10.1242/jcs.009654 · DOI
- Tabuchi M, Yanatori I, Kawai Y, Kishi F (2010) Retromer-mediated direct sorting is required for proper endosomal recycling of the mammalian iron transporter DMT1. J Cell Sci 123(Pt 5):756–766. doi: 10.1242/jcs.060574 · DOI
- Strochlic TI, Setty TG, Sitaram A, Burd CG (2007) Grd19/Snx3p functions as a cargo-specific adapter for retromer-dependent endocytic recycling. J Cell Biol 177(1):115–125. doi: 10.1083/jcb.200609161 · DOI · Paper page
- van Weering JR, Sessions RB, Traer CJ, Kloer DP, Bhatia VK, Stamou D, Carlsson SR, Hurley JH, Cullen PJ (2012) Molecular basis for SNX-BAR-mediated assembly of distinct endosomal sorting tubules. EMBO J 31(23):4466–4480. doi: 10.1038/emboj.2012.283 · DOI · Paper page
- van Weering JR, Verkade P, Cullen PJ (2012) SNX-BAR-mediated endosome tubulation is co-ordinated with endosome maturation. Traffic 13(1):94–107. doi: 10.1111/j.1600-0854.2011.01297.x · DOI
- Wassmer T, Attar N, Bujny MV, Oakley J, Traer CJ, Cullen PJ (2007) A loss-of-function screen reveals SNX5 and SNX6 as potential components of the mammalian retromer. J Cell Sci 120(Pt 1):45–54. doi: 10.1242/jcs.03302 · DOI · Paper page
- Wassmer T, Attar N, Harterink M, van Weering JR, Traer CJ, Oakley J, Goud B, Stephens DJ, Verkade P, Korswagen HC, Cullen PJ (2009) The retromer coat complex coordinates endosomal sorting and dynein-mediated transport, with carrier recognition by the trans-Golgi network. Dev Cell 17(1):110–122. doi: 10.1016/j.devcel.2009.04.016 · DOI
- Reitz C (2014) The role of the retromer complex in aging-related neurodegeneration: a molecular and genomic review. Mol Genet Genomics: MGG. doi: 10.1007/s00438-014-0939-9 · DOI
- Willnow TE, Andersen OM (2013) Sorting receptor SORLA—a trafficking path to avoid Alzheimer disease. J Cell Sci 126(Pt 13):2751–2760. doi: 10.1242/jcs.125393 · DOI · Paper page
- Kajii Y, Muraoka S, Hiraoka S, Fujiyama K, Umino A, Nishikawa T (2003) A developmentally regulated and psychostimulant-inducible novel rat gene mrt1 encoding PDZ-PX proteins isolated in the neocortex. Mol Psychiatry 8(4):434–444. doi: 10.1038/sj.mp.4001258 · DOI
- Ghai R, Mobli M, Norwood SJ, Bugarcic A, Teasdale RD, King GF, Collins BM (2011) Phox homology band 4.1/ezrin/radixin/moesin-like proteins function as molecular scaffolds that interact with cargo receptors and Ras GTPases. Proc Natl Acad Sci U S A 108(19):7763–7768. doi: 10.1073/pnas.1017110108 · DOI · Paper page
- Lunn ML, Nassirpour R, Arrabit C, Tan J, McLeod I, Arias CM, Sawchenko PE, Yates JR 3rd, Slesinger PA (2007) A unique sorting nexin regulates trafficking of potassium channels via a PDZ domain interaction. Nat Neurosci 10(10):1249–1259. doi: 10.1038/nn1953 · DOI · Paper page
- Teasdale RD, Collins BM (2012) Insights into the PX (phox-homology) domain and SNX (sorting nexin) protein families: structures, functions and roles in disease. Biochem J 441(1):39–59. doi: 10.1042/BJ20111226 · DOI · Paper page
- Gallon M, Clairfeuille T, Steinberg F, Mas C, Ghai R, Sessions RB, Teasdale RD, Collins BM, Cullen PJ (2014) A unique PDZ domain and arrestin-like fold interaction reveals mechanistic details of endocytic recycling by SNX27-retromer. Proc Natl Acad Sci U S A 111(35):E3604–E3613. doi: 10.1073/pnas.1410552111 · DOI · Paper page
- Steinberg F, Gallon M, Winfield M, Thomas EC, Bell AJ, Heesom KJ, Tavare JM, Cullen PJ (2013) A global analysis of SNX27-retromer assembly and cargo specificity reveals a function in glucose and metal ion transport. Nat Cell Biol 15(5):461–471. doi: 10.1038/ncb2721 · DOI · Paper page
- Joubert L, Hanson B, Barthet G, Sebben M, Claeysen S, Hong W, Marin P, Dumuis A, Bockaert J (2004) New sorting nexin (SNX27) and NHERF specifically interact with the 5-HT4a receptor splice variant: roles in receptor targeting. J Cell Sci 117(Pt 22):5367–5379. doi: 10.1242/jcs.01379 · DOI
- Lauffer BE, Melero C, Temkin P, Lei C, Hong W, Kortemme T, von Zastrow M (2010) SNX27 mediates PDZ-directed sorting from endosomes to the plasma membrane. J Cell Biol 190(4):565–574. doi: 10.1083/jcb.201004060 · DOI · Paper page
- Balana B, Maslennikov I, Kwiatkowski W, Stern KM, Bahima L, Choe S, Slesinger PA (2011) Mechanism underlying selective regulation of G protein-gated inwardly rectifying potassium channels by the psychostimulant-sensitive sorting nexin 27. Proc Natl Acad Sci U S A 108(14):5831–5836. doi: 10.1073/pnas.1018645108 · DOI · Paper page
- Bauch C, Koliwer J, Buck F, Honck HH, Kreienkamp HJ (2014) Subcellular sorting of the G-protein coupled mouse somatostatin receptor 5 by a network of PDZ-domain containing proteins. PLoS One 9(2):e88529. doi: 10.1371/journal.pone.0088529 · DOI
- Munoz MB, Slesinger PA (2014) Sorting nexin 27 regulation of G protein-gated inwardly rectifying K(+) channels attenuates in vivo cocaine response. Neuron 82(3):659–669. doi: 10.1016/j.neuron.2014.03.011 · DOI
- McGough IJ, Steinberg F, Gallon M, Yatsu A, Ohbayashi N, Heesom KJ, Fukuda M, Cullen PJ (2014) Identification of molecular heterogeneity in SNX27-retromer-mediated endosome-to-plasma-membrane recycling. J Cell Sci 127(22):4940–4953. doi: 10.1242/jcs.156299 · DOI · Paper page
- Cai L, Loo LS, Atlashkin V, Hanson BJ, Hong W (2011) Deficiency of sorting nexin 27 (SNX27) leads to growth retardation and elevated levels of N-methyl-D-aspartate receptor 2C (NR2C). Mol Cell Biol 31(8):1734–1747. doi: 10.1128/MCB. 01044-10 · DOI
- Hussain NK, Diering GH, Sole J, Anggono V, Huganir RL (2014) Sorting Nexin 27 regulates basal and activity-dependent trafficking of AMPARs. Proc Natl Acad Sci U S A 111(32):11840–11845. doi: 10.1073/pnas.1412415111 · DOI · Paper page
- Loo LS, Tang N, Al-Haddawi M, Dawe GS, Hong W (2014) A role for sorting nexin 27 in AMPA receptor trafficking. Nat Commun 5:3176. doi: 10.1038/ncomms4176 · DOI · Paper page
- Wang X, Zhao Y, Zhang X, Badie H, Zhou Y, Mu Y, Loo LS, Cai L, Thompson RC, Yang B, Chen Y, Johnson PF, Wu C, Bu G, Mobley WC, Zhang D, Gage FH, Ranscht B, Zhang YW, Lipton SA, Hong W, Xu H (2013) Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down’s syndrome. Nat Med 19(4):473–480. doi: 10.1038/nm.3117 · DOI · Paper page
- Small SA, Kent K, Pierce A, Leung C, Kang MS, Okada H, Honig L, Vonsattel JP, Kim TW (2005) Model-guided microarray implicates the retromer complex in Alzheimer’s disease. Ann Neurol 58(6):909–919. doi: 10.1002/ana.20667 · DOI · Paper page
- Vardarajan BN, Bruesegem SY, Harbour ME, Inzelberg R, Friedland R, St George-Hyslop P, Seaman MN, Farrer LA (2012) Identification of Alzheimer disease-associated variants in genes that regulate retromer function. Neurobiol Aging 33(9):2231 e2215–2231 e2230. doi: 10.1016/j.neurobiolaging.2012.04.02 · DOI · Paper page
- Freeman CL, Hesketh G, Seaman MN (2014) RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation. J Cell Sci 127(Pt 9):2053–2070. doi: 10.1242/jcs.144659 · DOI
- McGough IJ, Steinberg F, Jia D, Barbuti PA, McMillan KJ, Heesom KJ, Whone AL, Caldwell MA, Billadeau DD, Rosen MK, Cullen PJ (2014) Retromer binding to FAM21 and the WASH complex is perturbed by the Parkinson disease-linked VPS35(D620N) mutation. Curr Biol: CB 24(14):1670–1676. doi: 10.1016/j.cub.2014.06.024 · DOI · Paper page
- Popoff V, Mardones GA, Bai SK, Chambon V, Tenza D, Burgos PV, Shi A, Benaroch P, Urbe S, Lamaze C, Grant BD, Raposo G, Johannes L (2009) Analysis of articulation between clathrin and retromer in retrograde sorting on early endosomes. Traffic 10(12):1868–1880. doi: 10.1111/j.1600-0854.2009.00993.x · DOI
- Shi A, Sun L, Banerjee R, Tobin M, Zhang Y, Grant BD (2009) Regulation of endosomal clathrin and retromer-mediated endosome to Golgi retrograde transport by the J-domain protein RME-8. EMBO J 28(21):3290–3302. doi: 10.1038/emboj.2009.272 · DOI
- Gustavsson EK, Guella I, Trinh J, Szu-Tu C, Rajput A, Rajput AH, Steele JC, McKeown M, Jeon BS, Aasly JO, Farrer MJ (2014) Genetic variability of the retromer cargo recognition complex in parkinsonism. Mov Dis: Off J Mov Dis Soc. doi: 10.1002/mds.26104 · DOI · Paper page
- Vilarino-Guell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, Yu I, Encarnacion M, Munsie LN, Tapia L, Gustavsson EK, Chou P, Tatarnikov I, Evans DM, Pishotta FT, Volta M, Beccano-Kelly D, Thompson C, Lin MK, Sherman HE, Han HJ, Guenther BL, Wasserman WW, Bernard V, Ross CJ, Appel-Cresswell S, Stoessl AJ, Robinson CA, Dickson DW, Ross OA, Wszolek ZK, Aasly JO, Wu RM, Hentati F, Gibson RA, McPherson PS, Girard M, Rajput M, Rajput AH, Farrer MJ (2014) DNAJC13 mutations in Parkinson disease. Hum Mol Genet 23(7):1794–1801. doi: 10.1093/hmg/ddt570 · DOI
- Vilarino-Guell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, Soto-Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA, Behrouz B, Melrose HL, Hentati E, Puschmann A, Evans DM, Conibear E, Wasserman WW, Aasly JO, Burkhard PR, Djaldetti R, Ghika J, Hentati F, Krygowska-Wajs A, Lynch T, Melamed E, Rajput A, Rajput AH, Solida A, Wu RM, Uitti RJ, Wszolek ZK, Vingerhoets F, Farrer MJ (2011) VPS35 mutations in Parkinson disease. Am J Hum Genet 89(1):162–167. doi: 10.1016/j.ajhg.2011.06.001 · DOI · Paper page
- Zimprich A, Benet-Pages A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brucke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom TM (2011) A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 89(1):168–175. doi: 10.1016/j.ajhg.2011.06.008 · DOI · Paper page
- Gomez TS, Billadeau DD (2009) A FAM21-containing WASH complex regulates retromer-dependent sorting. Dev Cell 17(5):699–711. doi: 10.1016/j.devcel.2009.09.009 · DOI · Paper page
- Harbour ME, Breusegem SY, Seaman MN (2012) Recruitment of the endosomal WASH complex is mediated by the extended ‘tail’ of Fam21 binding to the retromer protein Vps35. Biochem J 442(1):209–220. doi: 10.1042/BJ20111761 · DOI · Paper page
- Jia D, Gomez TS, Billadeau DD, Rosen MK (2012) Multiple repeat elements within the FAM21 tail link the WASH actin regulatory complex to the retromer. Mol Biol Cell 23(12):2352–2361. doi: 10.1091/mbc.E11-12-1059 · DOI · Paper page
- Follett J, Norwood SJ, Hamilton NA, Mohan M, Kovtun O, Tay S, Zhe Y, Wood SA, Mellick GD, Silburn PA, Collins BM, Bugarcic A, Teasdale RD (2014) The Vps35 D620N mutation linked to Parkinson’s disease disrupts the cargo sorting function of retromer. Traffic 15(2):230–244. doi: 10.1111/tra.12136 · DOI
- Munsie LN, Milnerwood AJ, Seibler P, Beccano-Kelly DA, Tatarnikov I, Khinda J, Volta M, Kadgien C, Cao LP, Tapia L, Klein C, Farrer MJ (2014) Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's Disease VPS35 mutation p.D620N. Hum Mol Genet. doi: 10.1093/hmg/ddu582 · DOI · Paper page
- Zavodszky E, Seaman MN, Moreau K, Jimenez-Sanchez M, Breusegem SY, Harbour ME, Rubinsztein DC (2014) Mutation in VPS35 associated with Parkinson’s disease impairs WASH complex association and inhibits autophagy. Nat Commun 5:3828. doi: 10.1038/ncomms4828 · DOI · Paper page
Cited by
Sorted by citations
To degrade or not to degrade: Mechanisms and significance of endocytic recycling
Cullen, P. J., & Steinberg, F. (2018) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-018-0053-7 · Cited by 590
Self-citationDirect modulation of G protein-gated inwardly rectifying potassium (GIRK) channels
Nguyen, H., Glaaser, I. W., & Slesinger, P. A. (2024) · Frontiers in Physiology · doi:10.3389/fphys.2024.1386645 · Cited by 29
Jones, E., Adams, H., Chen, K.-E., Maroof, F., Ibbotson, T. M., Nakamura, Y., Banks, P. J., Healy, M. D., Lewis, P. A., Heesom, K. J., et al. (2026) · doi:10.64898/2026.05.14.724903
Self-citation
Metadata
- Authors
- Damseh, N., Danson, C. M., Al-Ashhab, M., Abu-Libdeh, B., Gallon, M., Sharma, K., Yaacov, B., Coulthard, E., Caldwell, M. A., Edvardson, S., Cullen, P. J., & Elpeleg, O.
- Venue
- neurogenetics
- Published
- 2015-04-17
- Volume
- 16
- Issue
- 3
- Pages
- 215-221
- ISSN
- 1364-6745
- 1364-6753
- PMC
- PMC4962907
- Cited by
- 41
- References
- 5
- Language
- en
- Licence
- www.springer.com/tdm (tdm)
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review