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Items: 1 to 20 of 34

1.

(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.

Front S, Biela-Banaś A, Burda P, Ballhausen D, Higaki K, Caciotti A, Morrone A, Charollais-Thoenig J, Gallienne E, Demotz S, Martin OR.

Eur J Med Chem. 2017 Jan 27;126:160-170. doi: 10.1016/j.ejmech.2016.09.095. Epub 2016 Sep 29.

PMID:
27750150
2.

The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.

Regier DS, Proia RL, D'Azzo A, Tifft CJ.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:663-73. Review.

PMID:
27491214
3.

Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.

Sánchez-Fernández EM, García Fernández JM, Mellet CO.

Chem Commun (Camb). 2016 Apr 25;52(32):5497-515. doi: 10.1039/c6cc01564f.

PMID:
27043200
4.

Synthesis of C-5a-chain extended derivatives of 4-epi-isofagomine: Powerful β-galactosidase inhibitors and low concentration activators of GM1-gangliosidosis-related human lysosomal β-galactosidase.

Thonhofer M, Weber P, Santana AG, Fischer R, Pabst BM, Paschke E, Schalli M, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Bioorg Med Chem Lett. 2016 Mar 1;26(5):1438-42. doi: 10.1016/j.bmcl.2016.01.059. Epub 2016 Jan 22.

PMID:
26838810
5.

Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel β-galactosidase:RTB lectin fusion.

Condori J, Acosta W, Ayala J, Katta V, Flory A, Martin R, Radin J, Cramer CL, Radin DN.

Mol Genet Metab. 2016 Feb;117(2):199-209. doi: 10.1016/j.ymgme.2015.12.002. Epub 2015 Dec 8.

PMID:
26766614
6.

Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1.

Bersani G, Guerriero C, Ricci F, Valentini P, Zampino G, Lazzareschi I, Antuzzi D, Rigante D.

J Dtsch Dermatol Ges. 2016 Mar;14(3):301-2. doi: 10.1111/ddg.12755. Epub 2016 Jan 14. No abstract available.

PMID:
26765271
7.

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

Regier DS, Kwon HJ, Johnston J, Golas G, Yang S, Wiggs E, Latour Y, Thomas S, Portner C, Adams D, Vezina G, Baker EH, Tifft CJ.

Am J Med Genet A. 2016 Mar;170(3):634-44. doi: 10.1002/ajmg.a.37468. Epub 2015 Dec 8.

PMID:
26646981
8.

Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis.

Vedak P, Sells R, De Souza A, Hoang MP, Kroshinsky D.

Pediatr Dermatol. 2015 Nov-Dec;32(6):e294-5. doi: 10.1111/pde.12666. Epub 2015 Sep 4.

PMID:
26337817
9.

Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan.

Weismann CM, Ferreira J, Keeler AM, Su Q, Qui L, Shaffer SA, Xu Z, Gao G, Sena-Esteves M.

Hum Mol Genet. 2015 Aug 1;24(15):4353-64. doi: 10.1093/hmg/ddv168. Epub 2015 May 10.

10.

Recurrent and novel GLB1 mutations in India.

Bidchol AM, Dalal A, Trivedi R, Shukla A, Nampoothiri S, Sankar VH, Danda S, Gupta N, Kabra M, Hebbar SA, Bhat RY, Matta D, Ekbote AV, Puri RD, Phadke SR, Gowrishankar K, Aggarwal S, Ranganath P, Sharda S, Kamate M, Datar CA, Bhat K, Kamath N, Shah H, Krishna S, Gopinath PM, Verma IC, Nagarajaram HA, Satyamoorthy K, Girisha KM.

Gene. 2015 Aug 10;567(2):173-81. doi: 10.1016/j.gene.2015.04.078. Epub 2015 Apr 30.

PMID:
25936995
11.

A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation.

Son MY, Kwak JE, Seol B, Lee DY, Jeon H, Cho YS.

J Pathol. 2015 Sep;237(1):98-110. doi: 10.1002/path.4551. Epub 2015 May 26.

PMID:
25925601
12.

Effects of cyclodextrins on GM1-gangliosides in fibroblasts from GM1-gangliosidosis patients.

Maeda Y, Motoyama K, Higashi T, Horikoshi Y, Takeo T, Nakagata N, Kurauchi Y, Katsuki H, Ishitsuka Y, Kondo Y, Irie T, Furuya H, Era T, Arima H.

J Pharm Pharmacol. 2015 Aug;67(8):1133-42. doi: 10.1111/jphp.12405. Epub 2015 Apr 7.

PMID:
25851126
13.

Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses.

Akgoc Z, Sena-Esteves M, Martin DR, Han X, d'Azzo A, Seyfried TN.

J Lipid Res. 2015 May;56(5):1006-13. doi: 10.1194/jlr.M057851. Epub 2015 Mar 20.

14.

White matter changes in GM1 gangliosidosis.

Tuteja M, Bidchol AM, Girisha KM, Phadke S.

Indian Pediatr. 2015 Feb;52(2):155-6.

15.

Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.

Kwak JE, Son MY, Son YS, Son MJ, Cho YS.

Biochem Biophys Res Commun. 2015 Feb 20;457(4):554-60. doi: 10.1016/j.bbrc.2015.01.023. Epub 2015 Jan 16.

PMID:
25600812
16.

Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis.

Takenouchi T, Kosaki R, Nakabayashi K, Hata K, Takahashi T, Kosaki K.

Pediatr Neurol. 2015 Feb;52(2):226-9. doi: 10.1016/j.pediatrneurol.2014.09.022. Epub 2014 Oct 16.

PMID:
25443580
17.

Child neurology: Exaggerated dermal melanocytosis in a hypotonic infant: a harbinger of GM1 gangliosidosis.

Armstrong-Javors A, Chu CJ.

Neurology. 2014 Oct 21;83(17):e166-8. doi: 10.1212/WNL.0000000000000912. No abstract available.

18.

Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

King JE, Dexter A, Gadi I, Zvereff V, Martin M, Bloom M, Vanderver A, Pizzino A, Schmidt JL.

J Genet Couns. 2014 Oct;23(5):734-41. doi: 10.1007/s10897-014-9720-9. Epub 2014 Apr 30. Review.

PMID:
24777551
19.

Structural basis of pharmacological chaperoning for human β-galactosidase.

Suzuki H, Ohto U, Higaki K, Mena-Barragán T, Aguilar-Moncayo M, Ortiz Mellet C, Nanba E, Garcia Fernandez JM, Suzuki Y, Shimizu T.

J Biol Chem. 2014 May 23;289(21):14560-8. doi: 10.1074/jbc.M113.529529. Epub 2014 Apr 15.

20.

Synthesis of 1,5-dideoxy-1,5-iminoribitol C-glycosides through a nitrone-olefin cycloaddition domino strategy: identification of pharmacological chaperones of mutant human lysosomal β-galactosidase.

Siriwardena A, Sonawane DP, Bande OP, Markad PR, Yonekawa S, Tropak MB, Ghosh S, Chopade BA, Mahuran DJ, Dhavale DD.

J Org Chem. 2014 May 16;79(10):4398-404. doi: 10.1021/jo500328u. Epub 2014 Apr 28.

PMID:
24735108

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