{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T05:44:45Z","timestamp":1668750285432},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2022,10,3]],"date-time":"2022-10-03T00:00:00Z","timestamp":1664755200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,10,3]],"date-time":"2022-10-03T00:00:00Z","timestamp":1664755200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Metab Brain Dis"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1007\/s11011-021-00669-9","type":"journal-article","created":{"date-parts":[[2022,10,3]],"date-time":"2022-10-03T05:02:18Z","timestamp":1664773338000},"page":"2669-2675","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease"],"prefix":"10.1007","volume":"37","author":[{"given":"Zahra","family":"Rahmani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arsham","family":"Banisadr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vadieh","family":"Ghodsinezhad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohsen","family":"Dibaj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omid","family":"Aryani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,10,3]]},"reference":[{"key":"669_CR1","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1515\/jpem-2016-0096","volume":"29","author":"M Abiri","year":"2016","unstructured":"Abiri M, Talebi S, Uitto J, Youssefian L, Vahidnezhad H, Shirzad T, Salehpour S, Zeinali S (2016) Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity. J Pediatr Endocrinol Metab 29:1215\u20131219. https:\/\/doi.org\/10.1515\/jpem-2016-0096","journal-title":"J Pediatr Endocrinol Metab"},{"key":"669_CR2","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations a. Nat Publ Gr 7:248\u2013249. https:\/\/doi.org\/10.1038\/nmeth0410-248","journal-title":"Nat Publ Gr"},{"key":"669_CR3","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1093\/nar\/gkn664","volume":"37","author":"R Apweiler","year":"2009","unstructured":"Apweiler R, Bairoch A, Bougueleret L et al (2009) The universal protein resource (UniProt) 2009. Nucleic Acids Res 37:169\u2013174. https:\/\/doi.org\/10.1093\/nar\/gkn664","journal-title":"Nucleic Acids Res"},{"key":"669_CR4","first-page":"112","volume":"41","author":"H Aryan","year":"2012","unstructured":"Aryan H, Aryani O, Banihashemi K, Zaman T, Houshmand M (2012) Novel mutations in sandhoff disease: a molecular analysis among Iranian cohort of infantile patients. Iran J Public Health 41:112\u2013118","journal-title":"Iran J Public Health"},{"key":"669_CR5","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1016\/S0006-291X(05)81388-9","volume":"181","author":"P Banerjee","year":"1991","unstructured":"Banerjee P, Siciliano L, Oliveri D, McCabe NR, Boyers MJ, Horwitz AL, Li SC, Dawson G (1991) Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease. Biochem Biophys Res Commun 181:108\u2013115","journal-title":"Biochem Biophys Res Commun"},{"key":"669_CR6","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1093\/nar\/28.1.235","volume":"28","author":"HM Berman","year":"2000","unstructured":"Berman HM, Westbrook J, Feng Z, Gilliland G, Bhat TN, Weissig H, Shindyalov IN, Bourne PE (2000) The protein data bank. Nucleic Acids Res 28:235\u2013242. https:\/\/doi.org\/10.1093\/nar\/28.1.235","journal-title":"Nucleic Acids Res"},{"key":"669_CR7","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/S0009-8981(02)00002-5","volume":"318","author":"NA Chamoles","year":"2002","unstructured":"Chamoles NA, Blanco M, Gaggioli D, Casentini C (2002) Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta 318:133\u2013137. https:\/\/doi.org\/10.1016\/S0009-8981(02)00002-5","journal-title":"Clin Chim Acta"},{"key":"669_CR8","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.mgene.2017.01.008","volume":"12","author":"R Ebrahimzadeh-Vesal","year":"2017","unstructured":"Ebrahimzadeh-Vesal R, Hosseini S, Moghaddassian M, Abbaszadegan MR (2017) Identification of novel missense HEXB gene mutation in Iranian-child with juvenile Sandhoff disease. Meta Gene 12:83\u201387. https:\/\/doi.org\/10.1016\/j.mgene.2017.01.008","journal-title":"Meta Gene"},{"key":"669_CR9","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1016\/j.gene.2012.09.124","volume":"512","author":"P Gaignard","year":"2013","unstructured":"Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C (2013) Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. Gene 512:521\u2013526. https:\/\/doi.org\/10.1016\/j.gene.2012.09.124","journal-title":"Gene"},{"key":"669_CR10","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1002\/humu.1380060313","volume":"6","author":"M Gomez-Lira","year":"1995","unstructured":"Gomez-Lira M, Perusi C, Brutti N, Farnetani MA, Margollicci MA, Rizzuto N, Pignatti PF, Salviati A (1995) A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease. Hum Mutat 6:260\u2013262. https:\/\/doi.org\/10.1002\/humu.1380060313","journal-title":"Hum Mutat"},{"key":"669_CR11","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.gene.2012.06.080","volume":"506","author":"L Gort","year":"2012","unstructured":"Gort L, De Olano N, Mac\u00edas-vidal J, Josep M (2012) GM2 gangliosidoses in Spain : analysis of the HEXA and HEXB genes in 34 Tay \u2013 Sachs and 14 Sandhoff patients \u2606. Gene 506:25\u201330. https:\/\/doi.org\/10.1016\/j.gene.2012.06.080","journal-title":"Gene"},{"key":"669_CR12","doi-asserted-by":"publisher","first-page":"21386","DOI":"10.1074\/jbc.273.33.21386","volume":"273","author":"Y Hou","year":"1998","unstructured":"Hou Y, McInnes B, Hinek A, Karpati G, Mahuran D (1998) A Pro504 \u2192 Ser substitution in the \u03b2-subunit of \u03b2-hexosaminidase a inhibits \u03b1-subunit hydrolysis of G(M2) ganglioside, resulting in chronic Sandhoff disease. J Biol Chem 273:21386\u201321392. https:\/\/doi.org\/10.1074\/jbc.273.33.21386","journal-title":"J Biol Chem"},{"key":"669_CR13","first-page":"6219","volume":"39","author":"Y Hou","year":"2000","unstructured":"Hou Y, Vocadlo D, Withers S, Mahuran D (2000) Role of Arg 211 in the active site of human -Hexosaminidase B \u2020. Society 39:6219\u20136227","journal-title":"Society"},{"key":"669_CR14","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1038\/nrd2132","volume":"5","author":"P Imming","year":"2006","unstructured":"Imming P, Sinning C, Meyer A (2006) Drugs, their targets and the nature and number of drug targets. Nat Rev Drug Discov 5:821\u2013834. https:\/\/doi.org\/10.1038\/nrd2132","journal-title":"Nat Rev Drug Discov"},{"key":"669_CR15","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P (2009) Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm 4:1073\u20131082. https:\/\/doi.org\/10.1038\/nprot.2009.86","journal-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm"},{"key":"669_CR16","doi-asserted-by":"publisher","first-page":"42","DOI":"10.5455\/2349-3291.ijcp20150210","volume":"2","author":"S Lakshmi","year":"2015","unstructured":"Lakshmi S, Anitha G, Vinoth S (2015) A rare case of Sandhoff disease: two in the same family. Int J Contemp Pediatr 2:42. https:\/\/doi.org\/10.5455\/2349-3291.ijcp20150210","journal-title":"Int J Contemp Pediatr"},{"key":"669_CR17","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1016\/j.taap.2004.10.012","volume":"204","author":"EM Leslie","year":"2005","unstructured":"Leslie EM, Deeley RG, Cole SPC (2005) Multidrug resistance proteins: role of P-glycoprotein, MRP1, MRP2, and BCRP (ABCG2) in tissue defense. Toxicol Appl Pharmacol 204:216\u2013237. https:\/\/doi.org\/10.1016\/j.taap.2004.10.012","journal-title":"Toxicol Appl Pharmacol"},{"key":"669_CR18","unstructured":"Lindgreen A (2004) Juvenile Sandhoff disease - nine new cases and a review of the literature. J Bus Ethics 51:31\u201339. https:\/\/doi.org\/10.1023\/B"},{"key":"669_CR19","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1016\/S0022-2836(03)00311-5","volume":"328","author":"T Maier","year":"2003","unstructured":"Maier T, Strater N, Schuette CG, Klingenstein R, Sandhoff K, Saenger W (2003) The X-ray crystal structure of human \u03b2-hexosaminidase B provides new insights into Sandhoff disease. J Mol Biol 328:669\u2013681. https:\/\/doi.org\/10.1016\/S0022-2836(03)00311-5","journal-title":"J Mol Biol"},{"key":"669_CR20","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1007\/s13337-016-0333-9","volume":"27","author":"A Mohebbi","year":"2016","unstructured":"Mohebbi A, Mohammadi S, Memarian A (2016) Prediction of HBF-0259 interactions with hepatitis B virus receptors and surface antigen secretory factors. VirusDisease 27:234\u2013241. https:\/\/doi.org\/10.1007\/s13337-016-0333-9","journal-title":"VirusDisease"},{"key":"669_CR21","unstructured":"Neote K, Mcinnes B, Mahuran DJ, Gravel RA Structure and Distribution of an Alu-type Deletion Mutation in Sandhoff Disease"},{"key":"669_CR22","doi-asserted-by":"publisher","first-page":"993","DOI":"10.1038\/nrd2199","volume":"5","author":"JP Overington","year":"2006","unstructured":"Overington JP, Al-Lazikani B, Hopkins AL (2006) How many drug targets are there? Nat Rev Drug Discov 5:993\u2013996. https:\/\/doi.org\/10.1038\/nrd2199","journal-title":"Nat Rev Drug Discov"},{"key":"669_CR23","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1002\/jcc.20084","volume":"25","author":"EF Pettersen","year":"2004","unstructured":"Pettersen EF, Goddard TD, Huang CC, Couch GS, Greenblatt DM, Meng EC, Ferrin TE (2004) UCSF chimera - a visualization system for exploratory research and analysis. J Comput Chem 25:1605\u20131612. https:\/\/doi.org\/10.1002\/jcc.20084","journal-title":"J Comput Chem"},{"key":"669_CR24","doi-asserted-by":"publisher","first-page":"W350","DOI":"10.1093\/nar\/gky300","volume":"46","author":"CHM Rodrigues","year":"2018","unstructured":"Rodrigues CHM, Pires DEV, Ascher DB (2018) DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability. Nucleic Acids Res 46:W350\u2013W355. https:\/\/doi.org\/10.1093\/nar\/gky300","journal-title":"Nucleic Acids Res"},{"key":"669_CR25","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/0022-510X(88)90058-5","volume":"87","author":"M Rubin","year":"1988","unstructured":"Rubin M, Karpati G, Wolfe LS, Carpenter S, Klavins MH, Mahuran DJ (1988) Adult onset motor neuronopathy in the juvenile type of hexosaminidase a and B deficiency. J Neurol Sci 87:103\u2013119. https:\/\/doi.org\/10.1016\/0022-510X(88)90058-5","journal-title":"J Neurol Sci"},{"key":"669_CR26","unstructured":"Sangalli MGA, Mottes M, Perusi C, et al (1995) A common hexosaminidase gene mutation in adult Sandhoff disease patients. 417\u2013418"},{"key":"669_CR27","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-018-0876-5","volume":"13","author":"AR Tavasoli","year":"2018","unstructured":"Tavasoli AR, Parvaneh N, Ashrafi MR, Rezaei Z, Zschocke J, Rostami P (2018) Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations Dr. Segolene Ayme. Orphanet J Rare Dis 13:1\u20138. https:\/\/doi.org\/10.1186\/s13023-018-0876-5","journal-title":"Orphanet J Rare Dis"},{"key":"669_CR28","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1016\/j.ymgme.2008.08.007","volume":"95","author":"SZ Wang","year":"2008","unstructured":"Wang SZ, Cach\u00f3n-Gonz\u00e1lez MB, Stein PE, Lachmann RH, Corry PC, Wraith JE, Cox TM (2008) A novel HEXB mutation and its structural effects in juvenile Sandhoff disease. Mol Genet Metab 95:236\u2013238. https:\/\/doi.org\/10.1016\/j.ymgme.2008.08.007","journal-title":"Mol Genet Metab"},{"key":"669_CR29","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1093\/jb\/mvs131","volume":"153","author":"K Yamada","year":"2013","unstructured":"Yamada K, Takado Y, Kato YS, Yamada Y, Ishiguro H, Wakamatsu N (2013) Characterization of the mutant \u03b2-subunit of \u03b2-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype. J Biochem 153:111\u2013119. https:\/\/doi.org\/10.1093\/jb\/mvs131","journal-title":"J Biochem"},{"key":"669_CR30","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1038\/jhg.2013.68","volume":"58","author":"N Yasui","year":"2013","unstructured":"Yasui N, Takaoka Y, Nishio H, Nurputra DK, Sekiguchi K, Hamaguchi H, Kowa H, Maeda E, Sugano A, Miura K, Sakaeda T, Kanda F, Toda T (2013) Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis. J Hum Genet 58:611\u2013617. https:\/\/doi.org\/10.1038\/jhg.2013.68","journal-title":"J Hum Genet"},{"key":"669_CR31","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1016\/S0022-510X(02)00007-2","volume":"195","author":"T Yoshizawa","year":"2002","unstructured":"Yoshizawa T, Kohno Y, Nissato S, Shoji S (2002) Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype. J Neurol Sci 195:129\u2013138. https:\/\/doi.org\/10.1016\/S0022-510X(02)00007-2","journal-title":"J Neurol Sci"},{"key":"669_CR32","doi-asserted-by":"publisher","first-page":"281","DOI":"10.3341\/kjo.2005.19.1.68","volume":"21","author":"Y Yun","year":"2015","unstructured":"Yun Y, Lee S (2015) A case Refort of Sandhoff disease. Iran J Public Health 21:281\u2013285. https:\/\/doi.org\/10.3341\/kjo.2005.19.1.68","journal-title":"Iran J Public Health"},{"key":"669_CR33","doi-asserted-by":"publisher","first-page":"68","DOI":"10.3341\/kjo.2005.19.1.68","volume":"19","author":"Y Yun","year":"2005","unstructured":"Yun Y, Lee S (2005) A case refort of Sandhoff disease. Korean J Ophthalmol 19:68\u201372. https:\/\/doi.org\/10.3341\/kjo.2005.19.1.68","journal-title":"Korean J Ophthalmol"},{"key":"669_CR34","doi-asserted-by":"publisher","unstructured":"Zampieri S, Cattarossi S, Maria A et al (2012) Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease : functional characterization of 9 novel sequence variants. 7:1\u201310. https:\/\/doi.org\/10.1371\/journal.pone.0041516","DOI":"10.1371\/journal.pone.0041516"},{"key":"669_CR35","doi-asserted-by":"publisher","first-page":"1048","DOI":"10.1016\/j.bbrc.2004.09.159","volume":"324","author":"M Zarghooni","year":"2004","unstructured":"Zarghooni M, Bukovac S, Tropak M, Callahan J, Mahuran D (2004) An \u03b1-subunit loop structure is required for GM2 activator protein binding by \u03b2-hexosaminidase a. Biochem Biophys Res Commun 324:1048\u20131052. https:\/\/doi.org\/10.1016\/j.bbrc.2004.09.159","journal-title":"Biochem Biophys Res Commun"},{"key":"669_CR36","doi-asserted-by":"publisher","unstructured":"Zhang W, Zeng H, Huang Y, et al (2016) Clinical , biochemical and molecular analysis of five Chinese patients with Sandhoff disease. https:\/\/doi.org\/10.1007\/s11011-016-9819-9","DOI":"10.1007\/s11011-016-9819-9"}],"container-title":["Metabolic Brain Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-021-00669-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11011-021-00669-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-021-00669-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T03:28:18Z","timestamp":1668655698000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11011-021-00669-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,3]]},"references-count":36,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["669"],"URL":"https:\/\/doi.org\/10.1007\/s11011-021-00669-9","relation":{},"ISSN":["0885-7490","1573-7365"],"issn-type":[{"value":"0885-7490","type":"print"},{"value":"1573-7365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,3]]},"assertion":[{"value":"13 June 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 October 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest\/competing interests"}},{"value":"We have taken informed consent from the patient\u2019s parent.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Written informed consent was obtained from the parents.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The participant has consented to the submission of the case report to the journal.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"We have not used any special drug or pesticide.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Scientific style"}}]}}