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Items: 1 to 20 of 125

1.
Impaired Elastic-Fiber Assembly by Fibroblasts from Patients with Either Morquio B Disease or Infantile GM1-Gangliosidosis Is Linked to Deficiency in the 67-kD Spliced Variant of β-Galactosidase
Aleksander Hinek, Sunqu Zhang, Adam C. Smith, John W. Callahan
Am J Hum Genet. 2000 Jul; 67(1): 23–36. Published online 2000 Jun 6. doi: 10.1086/302968
PMCID:
PMC1287082
AbstractArticlePDF–1.1M
2.
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis
João Stein Kannebley, Laura Silveira-Moriyama, Laís Orrico Donnabella Bastos, Carlos Eduardo Steiner
JIMD Rep. 2015; 24: 115–122. Published online 2015 Jun 25. doi: 10.1007/8904_2015_451
PMCID:
PMC4582032
AbstractArticlePDF–297K
3.
GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan
Hiroshi UENO, Osamu YAMATO, Takeshi SUGIURA, Moeko KOHYAMA, Akira YABUKI, Kenjiro MIYOSHI, Kazuya MATSUDA, Tsuyoshi UCHIDE
J Vet Med Sci. 2016 Jan; 78(1): 91–95. Published online 2015 Aug 3. doi: 10.1292/jvms.15-0281
PMCID:
PMC4751122
AbstractArticlePDF–1.2M
4.
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.
J Nishimoto, E Nanba, K Inui, S Okada, K Suzuki
Am J Hum Genet. 1991 Sep; 49(3): 566–574.
PMCID:
PMC1683129
SummaryPage BrowsePDF–1.6M
5.
Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.
R M Boustany, W H Qian, K Suzuki
Am J Hum Genet. 1993 Oct; 53(4): 881–888.
PMCID:
PMC1682392
SummaryPage BrowsePDF–1.5M
6.
Primary and Secondary Elastin-Binding Protein Defect Leads to Impaired Elastogenesis in Fibroblasts from GM1-Gangliosidosis Patients
Anna Caciotti, Maria Alice Donati, Tiziana Bardelli, Alessandra d’Azzo, Graziella Massai, Luciana Luciani, Enrico Zammarchi, Amelia Morrone
Am J Pathol. 2005 Dec; 167(6): 1689–1698. doi: 10.1016/S0002-9440(10)61251-5
PMCID:
PMC1613190
AbstractArticlePDF–1.1M
7.
A Duplication in the Canine β-Galactosidase Gene GLB1 Causes Exon Skipping and GM1-Gangliosidosis in Alaskan Huskies
Robert Kreutzer, Tosso Leeb, Gundi Müller, Andreas Moritz, Wolfgang Baumgärtner
Genetics. 2005 Aug; 170(4): 1857–1861. doi: 10.1534/genetics.105.042580
PMCID:
PMC1449761
AbstractArticlePDF–149K
8.
Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel β-galactosidase:RTB lectin fusion
Jose Condori, Walter Acosta, Jorge Ayala, Varun Katta, Ashley Flory, Reid Martin, Jonathan Radin, Carole L. Cramer, David N. Radin
Mol Genet Metab. Author manuscript; available in PMC 2018 Aug 30.
Published in final edited form as: Mol Genet Metab. 2016 Feb; 117(2): 199–209. Published online 2015 Dec 8. doi: 10.1016/j.ymgme.2015.12.002
PMCID:
PMC6116835
AbstractArticlePDF–1.3M
9.
Extensive Mongolian Spots in a Hypotonic Infant with GM1 Gangliosidosis
Suprabhat Ranjan, Pratap K. Patra
J Pediatr Neurosci. 2018 Jul-Sep; 13(3): 346–348. doi: 10.4103/JPN.JPN_180_17
PMCID:
PMC6144614
AbstractArticle
10.
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing
Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime
Case Rep Genet. 2018; 2018: 8635698. Published online 2018 Nov 15. doi: 10.1155/2018/8635698
PMCID:
PMC6276426
AbstractArticlePDF–2.1M
11.
Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II
John E. Richter, Jr., Michael T. Zimmermann, Patrick R. Blackburn, Ahmed N. Mohammad, Eric W. Klee, Laura M. Pollard, Colleen F. Macmurdo, Paldeep S. Atwal, Thomas R. Caulfield
Mol Genet Genomic Med. 2018 Nov; 6(6): 1229–1235. Published online 2018 Sep 5. doi: 10.1002/mgg3.454
PMCID:
PMC6305665
AbstractArticlePDF–1.4M
12.
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
K Yoshida, A Oshima, M Shimmoto, Y Fukuhara, H Sakuraba, N Yanagisawa, Y Suzuki
Am J Hum Genet. 1991 Aug; 49(2): 435–442.
PMCID:
PMC1683306
SummaryPage BrowsePDF–1.4M
13.
Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.
S Zhang, R Bagshaw, W Hilson, Y Oho, A Hinek, J T Clarke, J W Callahan
Biochem J. 2000 Jun 15; 348(Pt 3): 621–632.
PMCID:
PMC1221106
SummaryPDF–297K
14.
Clinical findings in Brazilian patients with adult GM1 gangliosidosis
Luciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, Charles Marques Lourenço, Mara Lucia Schmitz Ferreira Santos, Carolina Fischinger Moura de Souza, Ana Carolina Brusius‐Facchin, Guilherme Baldo, Mariluce Riegel, Roberto Giugliani
JIMD Rep. 2019 Sep; 49(1): 96–106. Published online 2019 Jul 17. doi: 10.1002/jmd2.12067
PMCID:
PMC6718113
AbstractArticlePDF–1.2M
15.
Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis
Yvonne L. Latour, Robin Yoon, Sarah E. Thomas, Christina Grant, Cuiling Li, Miguel Sena-Esteves, Maria L. Allende, Richard L. Proia, Cynthia J. Tifft
Mol Genet Metab Rep. 2019 Dec; 21: 100513. Published online 2019 Sep 11. doi: 10.1016/j.ymgmr.2019.100513
PMCID:
PMC6744524
AbstractArticlePDF–3.8M
16.
Characterization of glycan substrates accumulating in GM1 Gangliosidosis
Roger Lawrence, Jeremy L. Van Vleet, Linley Mangini, Adam Harris, Nathan Martin, Wyatt Clark, Sanjay Chandriani, Jonathan H. LeBowitz, Roberto Giugliani, Alessandra d'Azzo, Gouri Yogalingam, Brett E. Crawford
Mol Genet Metab Rep. 2019 Dec; 21: 100524. Published online 2019 Nov 3. doi: 10.1016/j.ymgmr.2019.100524
PMCID:
PMC6838976
AbstractArticlePDF–2.8M
17.
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content
Rodolfo Tonin, Anna Caciotti, Elena Procopio, Rita Fischetto, Federica Deodato, Maria Margherita Mancardi, Maja Di Rocco, Anna Ardissone, Alessandro Salviati, Antonio Marangi, Pietro Strisciuglio, Giusi Mangone, Arianna Casini, Silvia Ricci, Agata Fiumara, Rossella Parini, Francesco Saverio Pavone, Renzo Guerrini, Martino Calamai, Amelia Morrone
Sci Rep. 2019; 9: 17684. Published online 2019 Nov 27. doi: 10.1038/s41598-019-53995-5
PMCID:
PMC6881353
AbstractArticlePDF–2.3M
18.
Hepatic storage of oligosaccharides and glycolipids in a cat affected with GM1 gangliosidosis.
E W Holmes, J S O'Brien
Biochem J. 1978 Dec 1; 175(3): 945–953. doi: 10.1042/bj1750945
PMCID:
PMC1186157
SummaryPage BrowsePDF–1.5M
19.
Turnover of beta-galactosidase in fibroblasts from patients with genetically different types of beta-galactosidase deficiency.
O P Van Diggelen, A W Schram, M L Sinnott, P J Smith, D Robinson, H Galjaard
Biochem J. 1981 Oct 15; 200(1): 143–151. doi: 10.1042/bj2000143
PMCID:
PMC1163512
SummaryPage BrowsePDF–1.5M
20.
MR Imaging Findings in 2 Cases of Late Infantile GM1 Gangliosidosis
E. De Grandis, M. Di Rocco, A. Pessagno, E. Veneselli, A. Rossi
AJNR Am J Neuroradiol. 2009 Aug; 30(7): 1325–1327. doi: 10.3174/ajnr.A1508
PMCID:
PMC7051575
AbstractArticle

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