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Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII.

JIMD reports

Shimada T, Tomatsu S, Yasuda E, Mason RW, Mackenzie WG, Shibata Y, Kubaski F, Giugliani R, Yamaguchi S, Suzuki Y, Orii K, Orii T.
PMID: 24850234
JIMD Rep. 2014;16:15-24. doi: 10.1007/8904_2014_311. Epub 2014 May 22.

Chondroitin 6-sulfate (C6S), a glycosaminoglycan (GAG), is distributed mainly in the growth plates, aorta, and cornea; however, the physiological function of C6S is not fully understood. One of the limitations is that no rapid, accurate quantitative method to measure...

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Shimada T, Tomatsu S, Yasuda E, et al. Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII. JIMD Rep. 2014;16:15-24doi: 10.1007/8904_2014_311.
Shimada, T., Tomatsu, S., Yasuda, E., Mason, R. W., Mackenzie, W. G., Shibata, Y., Kubaski, F., Giugliani, R., Yamaguchi, S., Suzuki, Y., Orii, K., & Orii, T. (2014). Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII. JIMD reports, 1615-24. https://doi.org/10.1007/8904_2014_311
Shimada, Tsutomu, et al. "Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII." JIMD reports vol. 16 (2014): 15-24. doi: https://doi.org/10.1007/8904_2014_311
Shimada T, Tomatsu S, Yasuda E, Mason RW, Mackenzie WG, Shibata Y, Kubaski F, Giugliani R, Yamaguchi S, Suzuki Y, Orii K, Orii T. Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII. JIMD Rep. 2014;16:15-24. doi: 10.1007/8904_2014_311. Epub 2014 May 22. PMID: 24850234; PMCID: PMC4221613.
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Role of elosulfase alfa in mucopolysaccharidosis IVA.

The application of clinical genetics

Regier DS, Tanpaiboon P.
PMID: 27366102
Appl Clin Genet. 2016 Jun 14;9:67-74. doi: 10.2147/TACG.S69080. eCollection 2016.

Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease which results in a striking skeletal phenotype, but does not negatively impact the intellect of the patient. MPS IVA has a phenotypic continuum that...

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Regier DS, Tanpaiboon P. Role of elosulfase alfa in mucopolysaccharidosis IVA. Appl Clin Genet. 2016;9:67-74doi: 10.2147/TACG.S69080.
Regier, D. S., & Tanpaiboon, P. (2016). Role of elosulfase alfa in mucopolysaccharidosis IVA. The application of clinical genetics, 967-74. https://doi.org/10.2147/TACG.S69080
Regier, Debra S, and Tanpaiboon, Pranoot. "Role of elosulfase alfa in mucopolysaccharidosis IVA." The application of clinical genetics vol. 9 (2016): 67-74. doi: https://doi.org/10.2147/TACG.S69080
Regier DS, Tanpaiboon P. Role of elosulfase alfa in mucopolysaccharidosis IVA. Appl Clin Genet. 2016 Jun 14;9:67-74. doi: 10.2147/TACG.S69080. eCollection 2016. PMID: 27366102; PMCID: PMC4913537.
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Extraction of Glycosaminoglycan Peptide from Bovine Nasal Cartilage with 0.1 M Sodium Acetate.

Journal of agricultural and food chemistry

Nakano T, Nakano K, Sim JS.
PMID: 10554313
J Agric Food Chem. 1998 Feb 16;46(2):772-778. doi: 10.1021/jf970387y.

Cartilage is a nonedible byproduct with little saleable value, but it is rich in glycosaminoglycan (GAG), which can be converted to a highly profitable product. In this study, GAG was extracted from bovine cartilaginous tissues including nasal cartilage, occipital...

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Nakano T, Nakano K, Sim JS. Extraction of Glycosaminoglycan Peptide from Bovine Nasal Cartilage with 0.1 M Sodium Acetate. J Agric Food Chem. 1998;46(2):772-778doi: 10.1021/jf970387y.
Nakano, T., Nakano, K., & Sim, J. S. (1998). Extraction of Glycosaminoglycan Peptide from Bovine Nasal Cartilage with 0.1 M Sodium Acetate. Journal of agricultural and food chemistry, 46(2), 772-778. https://doi.org/10.1021/jf970387y
Nakano, et al. "Extraction of Glycosaminoglycan Peptide from Bovine Nasal Cartilage with 0.1 M Sodium Acetate." Journal of agricultural and food chemistry vol. 46,2 (1998): 772-778. doi: https://doi.org/10.1021/jf970387y
Nakano T, Nakano K, Sim JS. Extraction of Glycosaminoglycan Peptide from Bovine Nasal Cartilage with 0.1 M Sodium Acetate. J Agric Food Chem. 1998 Feb 16;46(2):772-778. doi: 10.1021/jf970387y. PMID: 10554313.
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Isolation and characterization of glycosaminoglycans from human atheromatous vessels.

Methods in molecular medicine

Papakonstantinou E, Roth M, Karakiulakis G.
PMID: 21340936
Methods Mol Med. 2001;52:123-36. doi: 10.1385/1-59259-073-X:123.

The complex cascade of events leading to the formation of atheromatous plaques depends on the interaction between several cell types, growth factors, cytokines, and molecules of the extracellular matrix (ECM) (1). Among different molecules of the ECM involved in...

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Papakonstantinou E, Roth M, Karakiulakis G. Isolation and characterization of glycosaminoglycans from human atheromatous vessels. Methods Mol Med. 2001;52:123-36doi: 10.1385/1-59259-073-X:123.
Papakonstantinou, E., Roth, M., & Karakiulakis, G. (2001). Isolation and characterization of glycosaminoglycans from human atheromatous vessels. Methods in molecular medicine, 52123-36. https://doi.org/10.1385/1-59259-073-X:123
Papakonstantinou, E, et al. "Isolation and characterization of glycosaminoglycans from human atheromatous vessels." Methods in molecular medicine vol. 52 (2001): 123-36. doi: https://doi.org/10.1385/1-59259-073-X:123
Papakonstantinou E, Roth M, Karakiulakis G. Isolation and characterization of glycosaminoglycans from human atheromatous vessels. Methods Mol Med. 2001;52:123-36. doi: 10.1385/1-59259-073-X:123. PMID: 21340936.
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The role of lumican in ocular disease.

ISRN ophthalmology

Amjadi S, Mai K, McCluskey P, Wakefield D.
PMID: 24558602
ISRN Ophthalmol. 2013 Jul 24;2013:632302. doi: 10.1155/2013/632302. eCollection 2013.

Lumican is keratan sulfate proteoglycan of the small leucine rich proteoglycan family. Through studies in animal models lumican has been found to be critical in maintaining corneal clarity. It maintains ordered collagen fibrils which are vital in keeping the...

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Amjadi S, Mai K, McCluskey P, et al. The role of lumican in ocular disease. ISRN Ophthalmol. 2013;2013:632302doi: 10.1155/2013/632302.
Amjadi, S., Mai, K., McCluskey, P., & Wakefield, D. (2013). The role of lumican in ocular disease. ISRN ophthalmology, 2013632302. https://doi.org/10.1155/2013/632302
Amjadi, Shahriar, et al. "The role of lumican in ocular disease." ISRN ophthalmology vol. 2013 (2013): 632302. doi: https://doi.org/10.1155/2013/632302
Amjadi S, Mai K, McCluskey P, Wakefield D. The role of lumican in ocular disease. ISRN Ophthalmol. 2013 Jul 24;2013:632302. doi: 10.1155/2013/632302. eCollection 2013. PMID: 24558602; PMCID: PMC3914189.
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Natural history of Morquio A patient with tracheal obstruction from birth to death.

Molecular genetics and metabolism reports

Doherty C, Averill LW, Theroux M, Mackenzie WG, Pizarro C, Mason RW, Tomatsu S.
PMID: 29326877
Mol Genet Metab Rep. 2017 Dec 22;14:59-67. doi: 10.1016/j.ymgmr.2017.11.005. eCollection 2018 Mar.

Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of

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Doherty C, Averill LW, Theroux M, et al. Natural history of Morquio A patient with tracheal obstruction from birth to death. Mol Genet Metab Rep. 2017;14:59-67doi: 10.1016/j.ymgmr.2017.11.005.
Doherty, C., Averill, L. W., Theroux, M., Mackenzie, W. G., Pizarro, C., Mason, R. W., & Tomatsu, S. (2018). Natural history of Morquio A patient with tracheal obstruction from birth to death. Molecular genetics and metabolism reports, 1459-67. https://doi.org/10.1016/j.ymgmr.2017.11.005
Doherty, Caitlin, et al. "Natural history of Morquio A patient with tracheal obstruction from birth to death." Molecular genetics and metabolism reports vol. 14 (2018): 59-67. doi: https://doi.org/10.1016/j.ymgmr.2017.11.005
Doherty C, Averill LW, Theroux M, Mackenzie WG, Pizarro C, Mason RW, Tomatsu S. Natural history of Morquio A patient with tracheal obstruction from birth to death. Mol Genet Metab Rep. 2017 Dec 22;14:59-67. doi: 10.1016/j.ymgmr.2017.11.005. eCollection 2018 Mar. PMID: 29326877; PMCID: PMC5758848.
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Chondroitin sulfatases differentially regulate Wnt signaling in prostate stem cells through effects on SHP2, phospho-ERK1/2, and Dickkopf Wnt signaling pathway inhibitor (DKK3).

Oncotarget

Bhattacharyya S, Feferman L, Tobacman JK.
PMID: 29245974
Oncotarget. 2017 Oct 27;8(59):100242-100260. doi: 10.18632/oncotarget.22152. eCollection 2017 Nov 21.

The chondroitin sulfatases N-acetylgalactosamine-4-sulfatase (ARSB) and galactosamine-N-acetyl-6-sulfatase (GALNS) remove either the 4-sulfate group at the non-reducing end of chondroitin 4-sulfate (C4S) and dermatan sulfate, or the 6-sulfate group of chondroitin 6-sulfate, chondroitin 4,6-disulfate (chondroitin sulfate E), or keratan sulfate....

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Bhattacharyya S, Feferman L, Tobacman JK. Chondroitin sulfatases differentially regulate Wnt signaling in prostate stem cells through effects on SHP2, phospho-ERK1/2, and Dickkopf Wnt signaling pathway inhibitor (DKK3). Oncotarget. 2017;8(59):100242-100260doi: 10.18632/oncotarget.22152.
Bhattacharyya, S., Feferman, L., & Tobacman, J. K. (2017). Chondroitin sulfatases differentially regulate Wnt signaling in prostate stem cells through effects on SHP2, phospho-ERK1/2, and Dickkopf Wnt signaling pathway inhibitor (DKK3). Oncotarget, 8(59), 100242-100260. https://doi.org/10.18632/oncotarget.22152
Bhattacharyya, Sumit, et al. "Chondroitin sulfatases differentially regulate Wnt signaling in prostate stem cells through effects on SHP2, phospho-ERK1/2, and Dickkopf Wnt signaling pathway inhibitor (DKK3)." Oncotarget vol. 8,59 (2017): 100242-100260. doi: https://doi.org/10.18632/oncotarget.22152
Bhattacharyya S, Feferman L, Tobacman JK. Chondroitin sulfatases differentially regulate Wnt signaling in prostate stem cells through effects on SHP2, phospho-ERK1/2, and Dickkopf Wnt signaling pathway inhibitor (DKK3). Oncotarget. 2017 Oct 27;8(59):100242-100260. doi: 10.18632/oncotarget.22152. eCollection 2017 Nov 21. PMID: 29245974; PMCID: PMC5725016.
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Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels.

Molecular genetics and metabolism reports

Donida B, Marchetti DP, Jacques CED, Ribas G, Deon M, Manini P, da Rosa HT, Moura DJ, Saffi J, Giugliani R, Vargas CR.
PMID: 28487826
Mol Genet Metab Rep. 2017 Apr 25;11:46-53. doi: 10.1016/j.ymgmr.2017.04.005. eCollection 2017 Jun.

Morquio A disease (Mucopolysaccharidosis type IVA, MPS IVA) is one of the 11 mucopolysaccharidoses (MPSs), a heterogeneous group of inherited lysosomal storage disorders (LSDs) caused by deficiency in enzymes need to degrade glycosaminoglycans (GAGs). Morquio A is characterized by...

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Donida B, Marchetti DP, Jacques CED, et al. Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels. Mol Genet Metab Rep. 2017;11:46-53doi: 10.1016/j.ymgmr.2017.04.005.
Donida, B., Marchetti, D. P., Jacques, C. E. D., Ribas, G., Deon, M., Manini, P., da Rosa, H. T., Moura, D. J., Saffi, J., Giugliani, R., & Vargas, C. R. (2017). Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels. Molecular genetics and metabolism reports, 1146-53. https://doi.org/10.1016/j.ymgmr.2017.04.005
Donida, Bruna, et al. "Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels." Molecular genetics and metabolism reports vol. 11 (2017): 46-53. doi: https://doi.org/10.1016/j.ymgmr.2017.04.005
Donida B, Marchetti DP, Jacques CED, Ribas G, Deon M, Manini P, da Rosa HT, Moura DJ, Saffi J, Giugliani R, Vargas CR. Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels. Mol Genet Metab Rep. 2017 Apr 25;11:46-53. doi: 10.1016/j.ymgmr.2017.04.005. eCollection 2017 Jun. PMID: 28487826; PMCID: PMC5408501.
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A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring.

Clinical medicine insights. Case reports

Goldman E, Vu A, Dietz K, Thomas SN.
PMID: 33746520
Clin Med Insights Case Rep. 2021 Mar 06;14:1179547621999409. doi: 10.1177/1179547621999409. eCollection 2021.

Mucopolysaccharidosis IVA (MPS IVA) is a rare autosomal recessive lysosomal storage disorder resulting from N-acetylgalactosamine-6-sulfatase (GALNS) deficiency that occurs in approximately 1 in 76 000 to 1 in 640 000 live births. Given that the diagnosis of MPS IVA...

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Goldman E, Vu A, Dietz K, et al. A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring. Clin Med Insights Case Rep. 2021;14:1179547621999409doi: 10.1177/1179547621999409.
Goldman, E., Vu, A., Dietz, K., & Thomas, S. N. (2021). A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring. Clinical medicine insights. Case reports, 141179547621999409. https://doi.org/10.1177/1179547621999409
Goldman, Eric, et al. "A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring." Clinical medicine insights. Case reports vol. 14 (2021): 1179547621999409. doi: https://doi.org/10.1177/1179547621999409
Goldman E, Vu A, Dietz K, Thomas SN. A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring. Clin Med Insights Case Rep. 2021 Mar 06;14:1179547621999409. doi: 10.1177/1179547621999409. eCollection 2021. PMID: 33746520; PMCID: PMC7940721.
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Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct .

JIMD reports

Stockler-Ipsiroglu S, Yazdanpanah N, Yazdanpanah M, Moisa Popurs M, Yuskiv N, Schmitz Ferreira Santos ML, Ae Kim C, Fischinger Moura de Souza C, Marques Lourenço C, Steiner CE, Federhen A, Giugliani L, Bastos Pereira DM, Durán-Carabali LE, Giugliani R.
PMID: 34258138
JIMD Rep. 2021 Mar 08;60(1):23-31. doi: 10.1002/jmd2.12211. eCollection 2021 Jul.

BACKGROUND: Morquio B disease (MBD) is a distinct OBJECTIVES AND METHODS: With the aim to further describe patterns of MBD-related dysostosis multiplex, we analyzed clinical, biochemical, and genetic features in 17 cases with RESULTS: About 14 of the 17...

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Stockler-Ipsiroglu S, Yazdanpanah N, Yazdanpanah M, et al. Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct . JIMD Rep. 2021;60(1):23-31doi: 10.1002/jmd2.12211.
Stockler-Ipsiroglu, S., Yazdanpanah, N., Yazdanpanah, M., Moisa Popurs, M., Yuskiv, N., Schmitz Ferreira Santos, M. L., Ae Kim, C., Fischinger Moura de Souza, C., Marques Lourenço, C., Steiner, C. E., Federhen, A., Giugliani, L., Bastos Pereira, D. M., Durán-Carabali, L. E., & Giugliani, R. (2021). Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct . JIMD reports, 60(1), 23-31. https://doi.org/10.1002/jmd2.12211
Stockler-Ipsiroglu, Sylvia, et al. "Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct ." JIMD reports vol. 60,1 (2021): 23-31. doi: https://doi.org/10.1002/jmd2.12211
Stockler-Ipsiroglu S, Yazdanpanah N, Yazdanpanah M, Moisa Popurs M, Yuskiv N, Schmitz Ferreira Santos ML, Ae Kim C, Fischinger Moura de Souza C, Marques Lourenço C, Steiner CE, Federhen A, Giugliani L, Bastos Pereira DM, Durán-Carabali LE, Giugliani R. Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct . JIMD Rep. 2021 Mar 08;60(1):23-31. doi: 10.1002/jmd2.12211. eCollection 2021 Jul. PMID: 34258138; PMCID: PMC8260481.
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Disease-specific glycosaminoglycan patterns in the extracellular matrix of human lung and brain.

Carbohydrate research

Ennemoser M, Pum A, Kungl A.
PMID: 34837849
Carbohydr Res. 2021 Nov 17;511:108480. doi: 10.1016/j.carres.2021.108480. Epub 2021 Nov 17.

A wide variety of diseases throughout the mammalian organism is characterized by abnormal deposition of various components of the extracellular matrix (ECM), including the heterogeneous family of glycosaminoglycans (GAGs), which contribute considerably to the ECM architecture as part of...

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Ennemoser M, Pum A, Kungl A. Disease-specific glycosaminoglycan patterns in the extracellular matrix of human lung and brain. Carbohydr Res. 2021;511:108480doi: 10.1016/j.carres.2021.108480.
Ennemoser, M., Pum, A., & Kungl, A. (2021). Disease-specific glycosaminoglycan patterns in the extracellular matrix of human lung and brain. Carbohydrate research, 511108480. https://doi.org/10.1016/j.carres.2021.108480
Ennemoser, Maria, et al. "Disease-specific glycosaminoglycan patterns in the extracellular matrix of human lung and brain." Carbohydrate research vol. 511 (2021): 108480. doi: https://doi.org/10.1016/j.carres.2021.108480
Ennemoser M, Pum A, Kungl A. Disease-specific glycosaminoglycan patterns in the extracellular matrix of human lung and brain. Carbohydr Res. 2021 Nov 17;511:108480. doi: 10.1016/j.carres.2021.108480. Epub 2021 Nov 17. PMID: 34837849.
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Hepatic transcriptome analysis identifies genes, polymorphisms and pathways involved in the fatty acids metabolism in sheep.

PloS one

Gunawan A, Listyarini K, Harahap RS, Jakaria, Roosita K, Sumantri C, Inounu I, Akter SH, Islam MA, Uddin MJ.
PMID: 34941886
PLoS One. 2021 Dec 23;16(12):e0260514. doi: 10.1371/journal.pone.0260514. eCollection 2021.

Fatty acids (FA) in ruminants, especially unsaturated FA (USFA) have important impact in meat quality, nutritional value, and flavour quality of meat, and on consumer's health. Identification of the genetic factors controlling the FA composition and metabolism is pivotal...

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Gunawan A, Listyarini K, Harahap RS, et al. Hepatic transcriptome analysis identifies genes, polymorphisms and pathways involved in the fatty acids metabolism in sheep. PLoS One. 2021;16(12):e0260514doi: 10.1371/journal.pone.0260514.
Gunawan, A., Listyarini, K., Harahap, R. S., Jakaria, Roosita, K., Sumantri, C., Inounu, I., Akter, S. H., Islam, M. A., & Uddin, M. J. (2021). Hepatic transcriptome analysis identifies genes, polymorphisms and pathways involved in the fatty acids metabolism in sheep. PloS one, 16(12), e0260514. https://doi.org/10.1371/journal.pone.0260514
Gunawan, Asep, et al. "Hepatic transcriptome analysis identifies genes, polymorphisms and pathways involved in the fatty acids metabolism in sheep." PloS one vol. 16,12 (2021): e0260514. doi: https://doi.org/10.1371/journal.pone.0260514
Gunawan A, Listyarini K, Harahap RS, Jakaria, Roosita K, Sumantri C, Inounu I, Akter SH, Islam MA, Uddin MJ. Hepatic transcriptome analysis identifies genes, polymorphisms and pathways involved in the fatty acids metabolism in sheep. PLoS One. 2021 Dec 23;16(12):e0260514. doi: 10.1371/journal.pone.0260514. eCollection 2021. PMID: 34941886; PMCID: PMC8699643.
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