Goutman SA, Hardiman O, Al-Chalabi A, Chió A, Savelieff MG, Kiernan MC, Feldman EL (2022) Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis. Lancet Neurol 21(5):480–493
Article CAS PubMed PubMed Central Google Scholar
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt J, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Basak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D’Alfonso S, Soraru G, Siciliano G, Filosto M, Padovani A, Chio A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc’h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-Garcia R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cichon S, Nothen MM, Amouyel P, Consortium S, Consortium P, Consortium S, Consortium S, Traynor BJ, Singleton AB, Mitne Neto M, Cauchi RJ, Ophoff RA, Wiedau-Pazos M, Lomen-Hoerth C, van Deerlin VM, Grosskreutz J, Roediger A, Gaur N, Jork A, Barthel T, Theele E, Ilse B, Stubendorff B, Witte OW, Steinbach R, Hubner CA, Graff C, Brylev L, Fominykh V, Demeshonok V, Ataulina A, Rogelj B, Koritnik B, Zidar J, Ravnik-Glavac M, Glavac D, Stevic Z, Drory V, Povedano M, Blair IP, Kiernan MC, Benyamin B, Henderson RD, Furlong S, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson GA, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Mather KA, Sachdev PS, Henders AK, Wallace L, de Carvalho M, Pinto S, Petri S, Weber M, Rouleau GA, Silani V, Curtis CJ, Breen G, Glass JD, Brown RH Jr, Landers JE, Shaw CE, Andersen PM, Groen EJN, van Es MA, Pasterkamp RJ, Fan D, Garton FC, McRae AF, Davey Smith G, Gaunt TR, Eberle MA, Mill J, McLaughlin RL, Hardiman O, Kenna KP, Wray NR, Tsai E, Runz H, Franke L, Al-Chalabi A, Van Damme P, van den Berg LH, Veldink JH (2021) Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nat Genet 53:1636–1648
Article PubMed PubMed Central Google Scholar
van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Vosa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavac M, Koritnik B, Zidar J, Leonardis L, Groselj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-Garcia R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Durr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nothen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D’Alfonso S, Bertolin C, Soraru G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ, Registry P, Group S, Registry S, Consortium FS, Consortium S, Group NS, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hubner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc’h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH (2016) Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet 48:1043–1048
Article PubMed PubMed Central Google Scholar
Rolland DCM, Basrur V, Jeon YK, McNeil-Schwalm C, Fermin D, Conlon KP, Zhou Y, Ng SY, Tsou CC, Brown NA, Thomas DG, Bailey NG, Omenn GS, Nesvizhskii AI, Root DE, Weinstock DM, Faryabi RB, Lim MS, Elenitoba-Johnson KSJ (2017) Functional proteogenomics reveals biomarkers and therapeutic targets in lymphomas. Proc Natl Acad Sci USA 114:6581–6586
Article CAS PubMed PubMed Central Google Scholar
Brandes N, Linial N, Linial M (2020) PWAS: proteome-wide association study-linking genes and phenotypes by functional variation in proteins. Genome Biol 21:173
Article CAS PubMed PubMed Central Google Scholar
Emdin CA, Khera AV, Kathiresan S (2017) Mendelian randomization. JAMA 318:1925–1926
Giambartolomei C, Vukcevic D, Schadt EE, Franke L, Hingorani AD, Wallace C, Plagnol V (2014) Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. PLoS Genet 10:e1004383
Article PubMed PubMed Central Google Scholar
Ou YN, Yang YX, Deng YT, Zhang C, Hu H, Wu BS, Liu Y, Wang YJ, Zhu Y, Suckling J, Tan L, Yu JT (2021) Identification of novel drug targets for Alzheimer’s disease by integrating genetics and proteomes from brain and blood. Mol Psychiatry 26:6065–6073
Article CAS PubMed Google Scholar
Storm CS, Kia DA, Almramhi MM, Bandres-Ciga S, Finan C, International Parkinson’s Disease Genomics C, Hingorani AD, Wood NW (2021) Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome. Nat Commun 12:7342
Article CAS PubMed PubMed Central Google Scholar
Deng YT, Ou YN, Wu BS, Yang YX, Jiang Y, Huang YY, Liu Y, Tan L, Dong Q, Suckling J, Li F, Yu JT (2022) Identifying causal genes for depression via integration of the proteome and transcriptome from brain and blood. Mol Psychiatry 27(6):2849–2857
Article CAS PubMed Google Scholar
Yang C, Farias FHG, Ibanez L, Suhy A, Sadler B, Fernandez MV, Wang F, Bradley JL, Eiffert B, Bahena JA, Budde JP, Li Z, Dube U, Sung YJ, Mihindukulasuriya KA, Morris JC, Fagan AM, Perrin RJ, Benitez BA, Rhinn H, Harari O, Cruchaga C (2021) Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders. Nat Neurosci 24:1302–1312
Article CAS PubMed PubMed Central Google Scholar
Wingo AP, Liu Y, Gerasimov ES, Gockley J, Logsdon BA, Duong DM, Dammer EB, Robins C, Beach TG, Reiman EM, Epstein MP, De Jager PL, Lah JJ, Bennett DA, Seyfried NT, Levey AI, Wingo TS (2021) Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer’s disease pathogenesis. Nat Genet 53:143–146
Article CAS PubMed PubMed Central Google Scholar
Wingo AP, Fan W, Duong DM, Gerasimov ES, Dammer EB, Liu Y, Harerimana NV, White B, Thambisetty M, Troncoso JC, Kim N, Schneider JA, Hajjar IM, Lah JJ, Bennett DA, Seyfried NT, Levey AI, Wingo TS (2020) Shared proteomic effects of cerebral atherosclerosis and Alzheimer’s disease on the human brain. Nat Neurosci 23:696–700
Article CAS PubMed PubMed Central Google Scholar
De Jager PL, Ma Y, McCabe C, Xu J, Vardarajan BN, Felsky D, Klein HU, White CC, Peters MA, Lodgson B, Nejad P, Tang A, Mangravite LM, Yu L, Gaiteri C, Mostafavi S, Schneider JA, Bennett DA (2018) A multi-omic atlas of the human frontal cortex for aging and Alzheimer’s disease research. Sci Data 5:180142
Article PubMed PubMed Central Google Scholar
Beach TG, Adler CH, Sue LI, Serrano G, Shill HA, Walker DG, Lue L, Roher AE, Dugger BN, Maarouf C, Birdsill AC, Intorcia A, Saxon-Labelle M, Pullen J, Scroggins A, Filon J, Scott S, Hoffman B, Garcia A, Caviness JN, Hentz JG, Driver-Dunckley E, Jacobson SA, Davis KJ, Belden CM, Long KE, Malek-Ahmadi M, Powell JJ, Gale LD, Nicholson LR, Caselli RJ, Woodruff BK, Rapscak SZ, Ahern GL, Shi J, Burke AD, Reiman EM, Sabbagh MN (2015) Arizona study of aging and neurodegenerative disorders and brain and body donation program. Neuropathology 35:354–389
Article PubMed PubMed Central Google Scholar
Wingo TS, Liu Y, Gerasimov ES, Gockley J, Logsdon BA, Duong DM, Dammer EB, Lori A, Kim PJ, Ressler KJ, Beach TG, Reiman EM, Epstein MP, De Jager PL, Lah JJ, Bennett DA, Seyfried NT, Levey AI, Wingo AP (2021) Brain proteome-wide association study implicates novel proteins in depression pathogenesis. Nat Neurosci 24:810–817
Article CAS PubMed PubMed Central Google Scholar
Fromer M, Roussos P, Sieberts SK, Johnson JS, Kavanagh DH, Perumal TM, Ruderfer DM, Oh EC, Topol A, Shah HR, Klei LL, Kramer R, Pinto D, Gümüş ZH, Cicek AE, Dang KK, Browne A, Lu C, Xie L, Readhead B, Stahl EA, Xiao J, Parvizi M, Hamamsy T, Fullard JF, Wang YC, Mahajan MC, Derry JM, Dudley JT, Hemby SE, Logsdon BA, Talbot K, Raj T, Bennett DA, De Jager PL, Zhu J, Zhang B, Sullivan PF, Chess A, Purcell SM, Shinobu LA, Mangravite LM, Toyoshiba H, Gur RE, Hahn CG, Lewis DA, Haroutunian V, Peters MA, Lipska BK, Buxbaum JD, Schadt EE, Hirai K, Roeder K, Brennand KJ, Katsanis N, Domenici E, Devlin B, Sklar P (2016) Gene expression elucidates functional impact of polygenic risk for schizophrenia. Nat Neurosci 19:1442–1453
Article CAS PubMed PubMed Central Google Scholar
Gusev A, Ko A, Shi H, Bhatia G, Chung W, Penninx BW, Jansen R, de Geus EJ, Boomsma DI, Wright FA, Sullivan PF, Nikkola E, Alvarez M, Civelek M, Lusis AJ, Lehtimaki T, Raitoharju E, Kahonen M, Seppala I, Raitakari OT, Kuusisto J, Laakso M, Price AL, Pajukanta P, Pasaniuc B (2016) Integrative approaches for large-scale transcriptome-wide association studies. Nat Genet 48:245–252
Article CAS PubMed PubMed Central Google Scholar
Lee YH (2020) Overview of mendelian randomization analysis. J Rheum Dis 27(4):241–246
Hemani G, Zheng J, Elsworth B, Wade KH, Haberland V, Baird D, Laurin C, Burgess S, Bowden J, Langdon R, Tan VY, Yarmolinsky J, Shihab HA, Timpson NJ, Evans DM, Relton C, Martin RM, Davey Smith G, Gaunt TR, Haycock PC (2018) The MR-Base platform supports systematic causal inference across the human phenome. Elife 7:e34408
Laufman O, Kedan A, Hong W, Lev S (2009) Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing. Embo J 28:2006–2017
Article CAS PubMed PubMed Central Google Scholar
Huang H, Ouyang Q, Zhu M, Yu H, Mei K, Liu R (2021) mTOR-mediated phosphorylation of VAMP8 and SCFD1 regulates autophagosome maturation. Nat Commun 12:6622
Article CAS PubMed PubMed Central Google Scholar
Iacoangeli A, Fogh I, Selvackadunco S, Topp SD, Shatunov A, van Rheenen W, Al-Khleifat A, Opie-Martin S, Ratti A, Calvo A, Consortium UKBE, Van Damme P, Robberecht W, Chio A, Dobson RJ, Hardiman O, Shaw CE, van den Berg LH, Andersen PM, Smith BN, Silani V, Veldink JH, Breen G, Troakes C, Al-Chalabi A, Jones AR (2021) SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed. Brain Commun 3:fcab236
Article PubMed PubMed Central Google Scholar
Ge YJ, Ou YN, Deng YT, Wu BS, Yang L, Zhang YR, Chen SD, Huang YY, Dong Q, Tan L, Yu JT, International FTDGC (2023) Prioritization of drug targets for neurodegenerative diseases by integrating genetic and proteomic data from brain and blood. Biol Psychiatry 93:770–779
Article CAS PubMed Google Scholar
Hou N, Yang Y, Scott IC, Lou X (2017) The Sec domain protein Scfd1 facilitates trafficking of ECM components during chondrogenesis. Dev Biol 421:8–15
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