22128166 17221873 25936995 15943552 15714521 21497194 15365997 21520340 7586649[uid] - Search Results

Year	Number of Results
1995	1
2004	1
2005	2
2007	1
2011	3
2012	1
2015	1
2024	0

1

Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.

Ohto U, Usui K, Ochi T, Yuki K, Satow Y, Shimizu T. Ohto U, et al. J Biol Chem. 2012 Jan 13;287(3):1801-12. doi: 10.1074/jbc.M111.293795. Epub 2011 Nov 28. J Biol Chem. 2012. PMID: 22128166 Free PMC article.

2

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.

Caciotti A, Donati MA, Procopio E, Filocamo M, Kleijer W, Wuyts W, Blaumeiser B, d'Azzo A, Simi L, Orlando C, McKenzie F, Fiumara A, Zammarchi E, Morrone A. Caciotti A, et al. Hum Mutat. 2007 Feb;28(2):204. doi: 10.1002/humu.9475. Hum Mutat. 2007. PMID: 17221873

3

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. Bidchol AM, et al. Gene. 2015 Aug 10;567(2):173-81. doi: 10.1016/j.gene.2015.04.078. Epub 2015 Apr 30. Gene. 2015. PMID: 25936995

4

The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

Georgiou T, Stylianidou G, Anastasiadou V, Caciotti A, Campos Y, Zammarchi E, Morrone A, D'azzo A, Drousiotou A. Georgiou T, et al. Genet Test. 2005 Summer;9(2):126-32. doi: 10.1089/gte.2005.9.126. Genet Test. 2005. PMID: 15943552

5

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.

Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A. Caciotti A, et al. Hum Mutat. 2005 Mar;25(3):285-92. doi: 10.1002/humu.20147. Hum Mutat. 2005. PMID: 15714521

6

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A. Caciotti A, et al. Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7. Biochim Biophys Acta. 2011. PMID: 21497194 Free PMC article.

7

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.

Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, D'Azzo A. Georgiou T, et al. Hum Mutat. 2004 Oct;24(4):352. doi: 10.1002/humu.9279. Hum Mutat. 2004. PMID: 15365997

8

Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

Higaki K, Li L, Bahrudin U, Okuzawa S, Takamuram A, Yamamoto K, Adachi K, Paraguison RC, Takai T, Ikehata H, Tominaga L, Hisatome I, Iida M, Ogawa S, Matsuda J, Ninomiya H, Sakakibara Y, Ohno K, Suzuki Y, Nanba E. Higaki K, et al. Hum Mutat. 2011 Jul;32(7):843-52. doi: 10.1002/humu.21516. Hum Mutat. 2011. PMID: 21520340

9

Clinical and molecular analysis of a Japanese boy with Morquio B disease.

Ishii N, Oohira T, Oshima A, Sakuraba H, Endo F, Matsuda I, Sukegawa K, Orii T, Suzuki Y. Ishii N, et al. Clin Genet. 1995 Aug;48(2):103-8. doi: 10.1111/j.1399-0004.1995.tb04065.x. Clin Genet. 1995. PMID: 7586649

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