{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T22:34:14Z","timestamp":1784759654510,"version":"3.55.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T00:00:00Z","timestamp":1731024000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T00:00:00Z","timestamp":1731024000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"IYTEBAP","award":["IYTE0229"],"award-info":[{"award-number":["IYTE0229"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Med"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1007\/s00109-024-02498-6","type":"journal-article","created":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T01:31:47Z","timestamp":1731029507000},"page":"1517-1526","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Abnormally accumulated GM2 ganglioside contributes to skeletal deformity in Tay-Sachs mice"],"prefix":"10.1007","volume":"102","author":[{"given":"Secil Akyildiz","family":"Demir","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0243-5011","authenticated-orcid":false,"given":"Volkan","family":"Seyrantepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,8]]},"reference":[{"key":"2498_CR1","first-page":"1","volume":"2","author":"CR Ferreira","year":"2017","unstructured":"Ferreira CR, Gahl WA (2017) Lysosomal storage diseases. Transl Sci Rare Dis 2:1\u201371","journal-title":"Transl Sci Rare Dis"},{"key":"2498_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fphys.2018.01663","volume":"9","author":"V Solovyeva","year":"2018","unstructured":"Solovyeva V, Shaimardanova AA, Chulpanova DS, Kitaeva KV, Chakrabarti L, Rizvanov AA (2018) New approaches to Tay-Sachs disease therapy. Front Physiol 9:1\u201311","journal-title":"Front Physiol"},{"issue":"2017","key":"2498_CR3","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.expneurol.2017.09.012","volume":"299","author":"V Seyrantepe","year":"2018","unstructured":"Seyrantepe V, Demir SA, Timur ZK, Von Gerichten J, Marsching C, Erdemli E et al (2018) Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse models of Tay-Sachs disease. Exp Neurol 299(2017):26\u201341","journal-title":"Exp Neurol"},{"key":"2498_CR4","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/j.beem.2014.08.010","volume":"29","author":"LA Clarke","year":"2015","unstructured":"Clarke LA, Hollak CEM (2015) The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. Best Pract Res Clin Endocrinol Metab 29:219\u2013235","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"2498_CR5","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1186\/s13023-019-0997-5","volume":"14","author":"G-A Kuiper","year":"2019","unstructured":"Kuiper G-A, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM et al (2019) Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure. Orphanet J Rare Dis 14:17","journal-title":"Orphanet J Rare Dis"},{"key":"2498_CR6","doi-asserted-by":"publisher","first-page":"1542","DOI":"10.1016\/j.bbadis.2011.07.013","volume":"1812","author":"E Oussoren","year":"2011","unstructured":"Oussoren E, Brands MMMG, Ruijter GJG, van der Ploeg AT, Reuser AJJ (2011) Bone, joint, and tooth development in mucopolysaccharidoses: Relevance to therapeutic options. Biochim Biophys Acta Mol Basis Dis 1812:1542\u20131556","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"key":"2498_CR7","doi-asserted-by":"publisher","first-page":"30","DOI":"10.3941\/jrcr.v9i5.2149","volume":"9","author":"C Malatt","year":"2015","unstructured":"Malatt C, Koning JL, Naheedy J (2015) Skeletal and brain abnormalities in fucosidosis, a rare lysosomal storage disorder. J Radiol Case Rep 9:30\u201338","journal-title":"J Radiol Case Rep"},{"key":"2498_CR8","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1007\/s00774-004-0529-8","volume":"22","author":"E Lebel","year":"2004","unstructured":"Lebel E, Dweck A, Foldes AJ, Golowa Y, Itzchaki M, Zimran A et al (2004) Bone density changes with enzyme therapy for Gaucher disease. J Bone Miner Metab 22:597\u2013601","journal-title":"J Bone Miner Metab"},{"key":"2498_CR9","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1007\/s10354-010-0841-y","volume":"160","author":"P Mikosch","year":"2010","unstructured":"Mikosch P, Hughes D (2010) An overview on bone manifestations in Gaucher disease. Wien Med Wochenschr 160:609\u2013624","journal-title":"Wien Med Wochenschr"},{"key":"2498_CR10","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1016\/j.ymgme.2016.02.001","volume":"117","author":"AR Ko","year":"2016","unstructured":"Ko AR, Jin DK, Cho SY, Park SW, Przybylska M, Yew NS et al (2016) AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II. Mol Genet Metab 117:447\u2013455","journal-title":"Mol Genet Metab"},{"key":"2498_CR11","first-page":"7075","volume":"24","author":"SC Kuehn","year":"2015","unstructured":"Kuehn SC, Koehne T, Cornils K, Markmann S, Riedel C, Pestka JM et al (2015) Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I. Hum Mol Genet 24:7075\u20137086","journal-title":"Hum Mol Genet"},{"key":"2498_CR12","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1016\/j.omtm.2020.11.018","volume":"20","author":"M Dahl","year":"2021","unstructured":"Dahl M, Smith EMK, Warsi S, Rothe M, Ferraz MJ, Aerts JMFG et al (2021) Correction of pathology in mice displaying Gaucher disease type 1 by a clinically-applicable lentiviral vector. Mol Ther Methods Clin Dev 20:312\u2013323","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2498_CR13","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1007\/BF01799575","volume":"13","author":"L Toma","year":"1990","unstructured":"Toma L, Pinto W, Rodrigues VC, Dietrich CP, Nader HB (1990) Impaired sulfated glycosaminoglycan metabolism in a patient with GM-2 gangliosidosis (Tay-Sachs disease). J Inherit Metab Dis 13:721\u2013731","journal-title":"J Inherit Metab Dis"},{"key":"2498_CR14","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1111\/j.1469-8749.1986.tb03860.x","volume":"28","author":"C Adams","year":"1986","unstructured":"Adams C, Green S (1986) Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review. Dev Med Child Neurol 28:236\u2013243","journal-title":"Dev Med Child Neurol"},{"key":"2498_CR15","doi-asserted-by":"publisher","first-page":"2259","DOI":"10.1007\/s00415-021-10492-y","volume":"268","author":"HT H\u00f6lzer","year":"2021","unstructured":"H\u00f6lzer HT, Boschann F, Hennermann JB, Hahn G, Hermann A, von der Hagen M et al (2021) Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis. J Neurol 268:2259\u20132262","journal-title":"J Neurol"},{"key":"2498_CR16","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1002\/mds.870070113","volume":"7","author":"N Nardocci","year":"1992","unstructured":"Nardocci N, Bertagnolio B, Rumi V, Angelini L (1992) Progressive dystonia symptomatic of juvenile GM2 gangliosidosis. Mov Disord 7:64\u201367","journal-title":"Mov Disord"},{"key":"2498_CR17","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1002\/ana.410110103","volume":"11","author":"WG Johnson","year":"1982","unstructured":"Johnson WG, Wigger HJ, Karp HR, Glaubiger LM, Rowland LP (1982) Juvenile spinal muscular atrophy: A new hexosaminidase deficiency phenotype. Ann Neurol 11:11\u201316","journal-title":"Ann Neurol"},{"key":"2498_CR18","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1001\/archneur.1976.00500020048008","volume":"33","author":"I Rapin","year":"1976","unstructured":"Rapin I (1976) Adult (Chronic) GM2 gangliosidosis. Arch Neurol 33:120","journal-title":"Arch Neurol"},{"key":"2498_CR19","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1006\/nbdi.2002.0511","volume":"10","author":"M Jeyakumar","year":"2002","unstructured":"Jeyakumar M, Smith D, Eliott-smith E, Cortina-borja M, Reinkensmeier G, Butters TD et al (2002) An inducible mouse model of late onset Tay \u2013 Sachs disease. Neurobiol Dis 10:201\u2013210","journal-title":"Neurobiol Dis"},{"key":"2498_CR20","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1021\/acs.jnatprod.6b00964","volume":"80","author":"HJ Chung","year":"2017","unstructured":"Chung HJ, Kim WK, Oh J, Kim MR, Shin JS, Lee J et al (2017) Anti-osteoporotic activity of harpagoside by upregulation of the BMP2 and Wnt signaling pathways in osteoblasts and suppression of differentiation in osteoclasts. J Nat Prod 80:434\u201342","journal-title":"J Nat Prod"},{"key":"2498_CR21","doi-asserted-by":"publisher","first-page":"e1422","DOI":"10.1038\/cddis.2014.350","volume":"5","author":"P Kushwaha","year":"2014","unstructured":"Kushwaha P, Khedgikar V, Gautam J, Dixit P, Chillara R, Verma A et al (2014) A novel therapeutic approach with Caviunin-based isoflavonoid that en routes bone marrow cells to bone formation via BMP2\/Wnt-\u03b2-catenin signaling. Cell Death Dis 5:e1422\u2013e1422","journal-title":"Cell Death Dis"},{"key":"2498_CR22","doi-asserted-by":"publisher","first-page":"1260","DOI":"10.1101\/gad.12.9.1260","volume":"12","author":"N Bucay","year":"1998","unstructured":"Bucay N, Sarosi I, Dunstan CR, Morony S, Tarpley J, Capparelli C et al (1998) osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification. Genes Dev 12:1260\u20131268","journal-title":"Genes Dev"},{"key":"2498_CR23","doi-asserted-by":"publisher","unstructured":"Beranger GE, Djedaini M, Battaglia S, Roux CH, Scheideler M, Heymann D,\u00a0Amri EZ, Pisani DF\u00a0(2015) Oxytocin reverses osteoporosis in a sex-dependent manner. Front Endocrinol (Lausanne)\u00a06:81.\u00a0https:\/\/doi.org\/10.3389\/fendo.2015.00081","DOI":"10.3389\/fendo.2015.00081"},{"key":"2498_CR24","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1155\/2015\/192761","volume":"2015","author":"JM Mucci","year":"2015","unstructured":"Mucci JM, Rozenfeld P (2015) Pathogenesis of bone alterations in Gaucher disease: the role of immune system. J Immunol Res 2015:1\u20136","journal-title":"J Immunol Res"},{"key":"2498_CR25","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/S0306-3623(97)00067-0","volume":"30","author":"R Blanqu\u00e9","year":"1998","unstructured":"Blanqu\u00e9 R, Cottereaux C, Gardner CR (1998) Increases in osteocalcin after ovariectomy are amplified by LPS injection: Strain differences in bone remodelling. Gen Pharmacol: Vasc Syst 30:51\u201356","journal-title":"Gen Pharmacol: Vasc Syst"},{"key":"2498_CR26","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s40364-017-0097-4","volume":"5","author":"TR Kuo","year":"2017","unstructured":"Kuo TR, Chen CH (2017) Bone biomarker for the clinical assessment of osteoporosis: Recent developments and future perspectives. Biomark Res 5:5\u201313","journal-title":"Biomark Res"},{"key":"2498_CR27","first-page":"65","volume":"2","author":"D Konuko\u011flu","year":"2019","unstructured":"Konuko\u011flu D (2019) Bone markers. Int J Med Biochem 2:65\u201378","journal-title":"Int J Med Biochem"},{"key":"2498_CR28","doi-asserted-by":"publisher","first-page":"846","DOI":"10.4103\/2230-8210.192914","volume":"20","author":"S Shetty","year":"2016","unstructured":"Shetty S, Kapoor N, Bondu J, Thomas N, Paul T (2016) Bone turnover markers: An emerging tool in the management of osteoporosis. Indian J Endocrinol Metab 20:846\u2013852","journal-title":"Indian J Endocrinol Metab"},{"key":"2498_CR29","doi-asserted-by":"publisher","first-page":"4617","DOI":"10.1007\/s12010-023-04318-y","volume":"195","author":"A Vijayalekha","year":"2023","unstructured":"Vijayalekha A, Anandasadagopan SK, Pandurangan AK (2023) An overview of collagen-based composite scaffold for bone tissue engineering. Appl Biochem Biotechnol 195:4617\u20134636","journal-title":"Appl Biochem Biotechnol"},{"key":"2498_CR30","doi-asserted-by":"publisher","unstructured":"\u0160romov\u00e1 V, Sobola D, Kaspar P (2023) A brief review of bone cell function and importance. Cells\u00a012(21):2576. https:\/\/doi.org\/10.3390\/cells12212576","DOI":"10.3390\/cells12212576"},{"key":"2498_CR31","doi-asserted-by":"publisher","first-page":"9975","DOI":"10.1073\/pnas.91.21.9975","volume":"91","author":"S Yamanaka","year":"1994","unstructured":"Yamanaka S, Johnson MD, Grinberg A, Westphal H, Crawley JN, Taniike M et al (1994) Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc Natl Acad Sci U S A 91:9975\u20139979","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2498_CR32","doi-asserted-by":"publisher","first-page":"102779","DOI":"10.1016\/j.otsr.2020.102779","volume":"107","author":"S Prost","year":"2021","unstructured":"Prost S, Pesenti S, Fuentes S, Tropiano P, Blondel B (2021) Treatment of osteoporotic vertebral fractures. Orthop Traumatol Surg Res 107:102779","journal-title":"Orthop Traumatol Surg Res"},{"key":"2498_CR33","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fpsyg.2020.612366","volume":"11","author":"RR Kelly","year":"2020","unstructured":"Kelly RR, Sidles SJ, LaRue AC (2020) Effects of neurological disorders on bone health. Front Psychol 11:1\u201327","journal-title":"Front Psychol"},{"key":"2498_CR34","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1016\/S0899-9007(97)83011-0","volume":"13","author":"BEC Nordin","year":"1997","unstructured":"Nordin BEC (1997) Calcium and osteoporosis. Nutrition 13:664\u2013686","journal-title":"Nutrition"},{"key":"2498_CR35","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1016\/j.job.2017.01.004","volume":"59","author":"T Tsukuba","year":"2017","unstructured":"Tsukuba T, Sakai E, Nishishita K, Kadowaki T, Okamoto K (2017) New functions of lysosomes in bone cells. J Oral Biosci 59:92\u201395","journal-title":"J Oral Biosci"},{"key":"2498_CR36","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1042\/BST20180445","volume":"47","author":"PY Ng","year":"2019","unstructured":"Ng PY, Patricia Ribet AB, Pavlos NJ (2019) Membrane trafficking in osteoclasts and implications for osteoporosis. Biochem Soc Trans 47:639\u2013650","journal-title":"Biochem Soc Trans"},{"key":"2498_CR37","doi-asserted-by":"publisher","unstructured":"Hwang YH, Kim KJ, Kim SJ, Mun SK, Hong SG, Son YJ, Yee ST (2018) Suppression effect of astaxanthin on osteoclast formation in vitro and bone loss in vivo. Int J Mol Sci\u00a019(3):912. https:\/\/doi.org\/10.3390\/ijms19030912","DOI":"10.3390\/ijms19030912"},{"key":"2498_CR38","doi-asserted-by":"publisher","unstructured":"Kim SJ, Hwang YH, Mun SK, Hong SG, Kim KJ, Kang KY, Son YJ, Yee ST (2018) Protective effects of 2,3,5,4\u2032-tetrahydroxyst induced ovary ectomy-induced osteoporosis mouse model. Int J Mol Sci\u00a019(9):2554. https:\/\/doi.org\/10.3390\/ijms19092554","DOI":"10.3390\/ijms19092554"}],"container-title":["Journal of Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00109-024-02498-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00109-024-02498-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00109-024-02498-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T03:22:04Z","timestamp":1732072924000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00109-024-02498-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,8]]},"references-count":38,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["2498"],"URL":"https:\/\/doi.org\/10.1007\/s00109-024-02498-6","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-3933766\/v1","asserted-by":"object"}]},"ISSN":["0946-2716","1432-1440"],"issn-type":[{"value":"0946-2716","type":"print"},{"value":"1432-1440","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,8]]},"assertion":[{"value":"5 February 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 October 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 October 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 November 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The animal study was reviewed and approved by IYTEHADYEK.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare that the research was conducted without any commercial or financial relationships that could be construed as a potential conflict of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}