Abnormally accumulated GM2 ganglioside contributes to skeletal deformity in Tay-Sachs mice

Ferreira CR, Gahl WA (2017) Lysosomal storage diseases. Transl Sci Rare Dis 2:1–71

PubMed  PubMed Central  Google Scholar 

Solovyeva V, Shaimardanova AA, Chulpanova DS, Kitaeva KV, Chakrabarti L, Rizvanov AA (2018) New approaches to Tay-Sachs disease therapy. Front Physiol 9:1–11

Article  Google Scholar 

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):26–41

Article  CAS  PubMed  Google Scholar 

Clarke LA, Hollak CEM (2015) The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. Best Pract Res Clin Endocrinol Metab 29:219–235

Article  CAS  PubMed  Google Scholar 

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

Article  PubMed  PubMed Central  Google Scholar 

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 1812:1542–1556

Article  CAS  Google Scholar 

Malatt C, Koning JL, Naheedy J (2015) Skeletal and brain abnormalities in fucosidosis, a rare lysosomal storage disorder. J Radiol Case Rep 9:30–38

Article  PubMed  PubMed Central  Google Scholar 

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 22:597–601

Article  PubMed  Google Scholar 

Mikosch P, Hughes D (2010) An overview on bone manifestations in Gaucher disease. Wien Med Wochenschr 160:609–624

Article  PubMed  Google Scholar 

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 117:447–455

Article  CAS  PubMed  Google Scholar 

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 24:7075–7086

CAS  PubMed  Google Scholar 

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 20:312–323

Article  CAS  PubMed  Google Scholar 

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 13:721–731

Article  CAS  PubMed  Google Scholar 

Adams C, Green S (1986) Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review. Dev Med Child Neurol 28:236–243

Article  CAS  PubMed  Google Scholar 

Hölzer 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 268:2259–2262

Article  PubMed  PubMed Central  Google Scholar 

Nardocci N, Bertagnolio B, Rumi V, Angelini L (1992) Progressive dystonia symptomatic of juvenile GM2 gangliosidosis. Mov Disord 7:64–67

Article  CAS  PubMed  Google Scholar 

Johnson WG, Wigger HJ, Karp HR, Glaubiger LM, Rowland LP (1982) Juvenile spinal muscular atrophy: A new hexosaminidase deficiency phenotype. Ann Neurol 11:11–16

Article  CAS  PubMed  Google Scholar 

Rapin I (1976) Adult (Chronic) GM2 gangliosidosis. Arch Neurol 33:120

Article  CAS  PubMed  Google Scholar 

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 – Sachs disease. Neurobiol Dis 10:201–210

Article  CAS  PubMed  Google Scholar 

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 80:434–42

Article  CAS  PubMed  Google Scholar 

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-β-catenin signaling. Cell Death Dis 5:e1422–e1422

Article  CAS  PubMed  PubMed Central  Google Scholar 

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 12:1260–1268

Article  CAS  PubMed  PubMed Central  Google Scholar 

Beranger GE, Djedaini M, Battaglia S, Roux CH, Scheideler M, Heymann D, Amri EZ, Pisani DF (2015) Oxytocin reverses osteoporosis in a sex-dependent manner. Front Endocrinol (Lausanne) 6:81. https://doi.org/10.3389/fendo.2015.00081

Mucci JM, Rozenfeld P (2015) Pathogenesis of bone alterations in Gaucher disease: the role of immune system. J Immunol Res 2015:1–6

Article  Google Scholar 

Blanqué 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 30:51–56

Article  Google Scholar 

Kuo TR, Chen CH (2017) Bone biomarker for the clinical assessment of osteoporosis: Recent developments and future perspectives. Biomark Res 5:5–13

Article  Google Scholar 

Konukoğlu D (2019) Bone markers. Int J Med Biochem 2:65–78

Google Scholar 

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 20:846–852

Article  PubMed  PubMed Central  Google Scholar 

Vijayalekha A, Anandasadagopan SK, Pandurangan AK (2023) An overview of collagen-based composite scaffold for bone tissue engineering. Appl Biochem Biotechnol 195:4617–4636

Article  CAS  PubMed  Google Scholar 

Šromová V, Sobola D, Kaspar P (2023) A brief review of bone cell function and importance. Cells 12(21):2576. https://doi.org/10.3390/cells12212576

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 91:9975–9979

Article  CAS  PubMed  PubMed Central  Google Scholar 

Prost S, Pesenti S, Fuentes S, Tropiano P, Blondel B (2021) Treatment of osteoporotic vertebral fractures. Orthop Traumatol Surg Res 107:102779

Article  PubMed  Google Scholar 

Kelly RR, Sidles SJ, LaRue AC (2020) Effects of neurological disorders on bone health. Front Psychol 11:1–27

Article  Google Scholar 

Nordin BEC (1997) Calcium and osteoporosis. Nutrition 13:664–686

Article  CAS  PubMed  Google Scholar 

Tsukuba T, Sakai E, Nishishita K, Kadowaki T, Okamoto K (2017) New functions of lysosomes in bone cells. J Oral Biosci 59:92–95

Article  Google Scholar 

Ng PY, Patricia Ribet AB, Pavlos NJ (2019) Membrane trafficking in osteoclasts and implications for osteoporosis. Biochem Soc Trans 47:639–650

留言 (0)

沒有登入
gif