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Items: 1 to 20 of 31

1.
Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family
Saima Ghafoor, Karina da Costa Silveira, Raheel Qamar, Maleeha Azam, Peter Kannu
Genes (Basel) 2022 Oct; 13(10): 1743. Published online 2022 Sep 27. doi: 10.3390/genes13101743
PMCID:
PMC9602411
AbstractArticlePDF–1.7M
2.
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
Alessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, Ana Carolina Brusius‐Facchin, Yin‐Hsiu Chien, Roberto Giugliani, Emanuela Izzo, David C. Kasper, Hsiang‐Yu Lin, Shuan‐Pei Lin, Laura Pollard, Akashdeep Singh, Rodolfo Tonin, Tim Wood, Amelia Morrone, Rosella Tomanin
Hum Mutat. 2021 Nov; 42(11): 1384–1398. Published online 2021 Aug 23. doi: 10.1002/humu.24270
PMCID:
PMC9291100
AbstractArticlePDF–2.0M
3.
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
Harsh Sheth, Premal Naik, Maulin Shah, Riddhi Bhavsar, Aadhira Nair, Frenny Sheth, Jayesh Sheth
BMC Genomics. 2022; 23: 458. Published online 2022 Jun 21. doi: 10.1186/s12864-022-08693-4
PMCID:
PMC9210747
AbstractArticlePDF–1.9M
4.
Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe
Aleksandra Jezela-Stanek, Agnieszka Różdżyńska-Świątkowska, Anna Kulpanovich, Elżbieta Ciara, Jolanta Marucha, Anna Tylki-Szymańska
J Appl Genet. 2019; 60(2): 163–174. Published online 2019 Mar 30. doi: 10.1007/s13353-019-00491-1
PMCID:
PMC6483970
AbstractArticlePDF–1.7M
5.
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone
BMC Med Genet. 2018; 19: 183. Published online 2018 Oct 11. doi: 10.1186/s12881-018-0694-6
PMCID:
PMC6180571
AbstractArticlePDF–1.2M
6.
Molecular Genetics and Metabolism Special Edition: Diagnosis Diagnosis and Prognosis of Mucopolysaccharidosis IVA
Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Mol Genet Metab. Author manuscript; available in PMC 2019 Sep 1.
Published in final edited form as: Mol Genet Metab. 2018 Sep; 125(1-2): 18–37. Published online 2018 May 15. doi: 10.1016/j.ymgme.2018.05.004
PMCID:
PMC6175643
AbstractArticlePDF–1.1M
7.
Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database
Amelia Morrone, Anna Caciotti, Robert Atwood, Kathryn Davidson, Chaoyi Du, Patricia Francis-Lyon, Paul Harmatz, Matthew Mealiffe, Sean Mooney, Tal Ronnen Oron, April Ryles, Karl A Zawadzki, Nicole Miller
Hum Mutat. 2014 Nov; 35(11): 1271–1279. Published online 2014 Sep 17. doi: 10.1002/humu.22635
PMCID:
PMC4238747
AbstractArticlePDF–500K
8.
Molecular Testing of 163 Patients with Morquio A (Mucopolysaccharidosis IVA) Identifies 39 Novel GALNS Mutations
A Morrone, K.L. Tylee, M Al-Sayed, A.C. Brusius-Facchin, A. Caciotti, H.J. Church, M.J. Coll, K. Davidson, M.J. Fietz, L. Gort, M. Hegde, F. Kubaski, L. Lacerda, F. Laranjeira, S. Leistner-Segal, S. Mooney, S. Pajares, L. Pollard, I. Riberio, R.Y. Wang, N. Miller
Mol Genet Metab. Author manuscript; available in PMC 2015 Jun 1.
Published in final edited form as: Mol Genet Metab. 2014 Jun; 112(2): 160–170. Published online 2014 Mar 20. doi: 10.1016/j.ymgme.2014.03.004
Correction in:
volume 113 on page 237
PMCID:
PMC4203673
AbstractArticlePDF–1.0M
9.
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels
Vu Chi Dũng, Shunji Tomatsu, Adriana M. Montaño, Gary Gottesman, Michael B. Bober, William Mackenzie, Miho Maeda, Grant A. Mitchell, Yasuyuki Suzuki, Tadao Orii
Mol Genet Metab. Author manuscript; available in PMC 2014 Sep 1.
Published in final edited form as: Mol Genet Metab. 2013 Sep-Oct; 110(0): 129–138. Published online 2013 Jun 26. doi: 10.1016/j.ymgme.2013.06.008
PMCID:
PMC3779837
AbstractArticlePDF–665K
10.
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A
Yadilette Rivera-Colón, Emily K. Schutsky, Adriana Z. Kita, Scott C. Garman
J Mol Biol. Author manuscript; available in PMC 2013 Nov 9.
Published in final edited form as: J Mol Biol. 2012 Nov 9; 423(5): 736–751. Published online 2012 Aug 29. doi: 10.1016/j.jmb.2012.08.020
PMCID:
PMC3472114
AbstractArticlePDF–3.8M
11.
Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: Implication in Morquio A disease
Souhir Khedhiri, Latifa Chkioua, Salima Ferchichi, Abdelhedi Miled, Sandrine Laradi
Diagn Pathol. 2011; 6: 11. Published online 2011 Jan 20. doi: 10.1186/1746-1596-6-11
PMCID:
PMC3034659
AbstractArticlePDF–187K
12.
Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.
S. Tomatsu, S. Fukuda, A. Yamagishi, A. Cooper, J. F. Wraith, T. Hori, Z. Kato, N. Yamada, K. Isogai, K. Sukegawa, N. Kondo, Y. Suzuki, N. Shimozawa, T. Orii
Am J Hum Genet. 1996 May; 58(5): 950–962.
PMCID:
PMC1914620
SummaryPage BrowsePDF–3.0M
13.
Mucopolysaccharidosis IVA: Identification of a Common Missense Mutation I113F in the N-Acetylgalactosamine-6-Sulfate Sulfatase Gene
Shunji Tomatsu, Seiji Fukuda, Alan Cooper, James E. Wraith, Golam Md. Maruf Rezvi, Atsushi Yamagishi, Naoto Yamada, Zenichiro Kato, Kouji Isogai, Kazuko Sukegawa, Naomi Kondo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Tadao Orii
Am J Hum Genet. 1995 Sep; 57(3): 556–563.
PMCID:
PMC1801282
SummaryPage BrowsePDF–1.4M
14.
The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.
E Baker, X H Guo, A M Orsborn, G R Sutherland, D F Callen, J J Hopwood, C P Morris
Am J Hum Genet. 1993 Jan; 52(1): 96–98.
PMCID:
PMC1682100
SummaryPage BrowsePDF–496K
15.
Human liver N-acetylgalactosamine 6-sulphatase. Purification and characterization.
J Bielicki, J J Hopwood
Biochem J. 1991 Oct 15; 279(Pt 2): 515–520. doi: 10.1042/bj2790515
PMCID:
PMC1151634
SummaryPage BrowsePDF–1.2M
16.
Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase.
J Bielicki, M Fuller, X H Guo, C P Morris, J J Hopewood, D S Anson
Biochem J. 1995 Oct 1; 311(Pt 1): 333–339. doi: 10.1042/bj3110333
PMCID:
PMC1136156
SummaryPage BrowsePDF–1.2M
17.
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
S Fukuda, S Tomatsu, M Masue, K Sukegawa, H Iwata, T Ogawa, Y Nakashima, T Hori, A Yamagishi, Y Hanyu, et al.
J Clin Invest. 1992 Sep; 90(3): 1049–1053. doi: 10.1172/JCI115919
PMCID:
PMC329963
SummaryPage BrowsePDF–1.3M
18.
Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2
Ester Zito, Alessandro Fraldi, Stefano Pepe, Ida Annunziata, Gary Kobinger, Paola Di Natale, Andrea Ballabio, Maria Pia Cosma
EMBO Rep. 2005 Jul; 6(7): 655–660. Published online 2005 Jun 17. doi: 10.1038/sj.embor.7400454
Correction in:
EMBO Rep. 2016 Dec; 17(12): 1901.
PMCID:
PMC1369113
AbstractArticlePDF–182K
19.
Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking, and activity of the nonselective cation channel TRPC6
Brianna E. Talbot, David H. Vandorpe, Brian R. Stotter, Seth L. Alper, Johannes S. Schlondorff
J Biol Chem. 2019 Aug 23; 294(34): 12655–12669. Published online 2019 Jul 2. doi: 10.1074/jbc.RA119.008299
PMCID:
PMC6709635
AbstractArticlePDF–2.5M
20.
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1
Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen
Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119
PMCID:
PMC9231623
AbstractArticlePDF–6.0M

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