Výsledky vyhledávání - "Phannee Sawangareetrakul"

Akademický článek

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

Autor: Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti

Publikováno v: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)

Abstract Background Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and molecular character

Externí odkaz: https://doaj.org/article/20abc3ca858c4e58874ef006f623ebd5

Zobrazit plný text záznamu

Plný text ve formátu HTML

Chemoenzymatic and Protecting-Group-Free Synthesis of 1,4-Substituted 1,2,3-Triazole-α-d-glucosides with Potent Inhibitory Activity toward Lysosomal α-Glucosidase

Autor: Suwadee Chokchaisiri, Jaggaiah N. Gorantla, Santhi Maniganda, Lukana Ngiwsara, Jisnuson Svasti, Phannee Sawangareetrakul, S. Pengthaisong, James R. Ketudat Cairns, Prasat Kittakoop

Publikováno v: ACS Omega
ACS Omega, Vol 6, Iss 39, Pp 25710-25719 (2021)

α-Glucosyl triazoles have rarely been tested as α-glucosidase inhibitors, partly due to inefficient synthesis of their precursor α-d-glucosylazide (αGA1). Glycosynthase enzymes, made by nucleophile mutations of retaining β-glucosidases, produce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b46a863d271d41de21dd25a9c865eb02
https://doi.org/10.1021/acsomega.1c03928

Zobrazit plný text záznamu

Effects of gentamicin inducing readthrough premature stop Codons: A study of alpha-L-iduronidase nonsense variants in COS-7 Cells

Autor: Lukana Ngiwsara, Phannee Sawangareetrakul, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Prapai Dejkhamron, Voraratt Champattanachai, James R. Ketudat-Cairns, Jisnuson Svasti

Publikováno v: Biochemical and biophysical research communications. 636(Pt 1)

Mucopolysaccharidosis type I Hurler syndrome (MPS IH) is a severe lysosomal storage disorder caused by alpha-l-iduronidase (IDUA) deficiency. Premature truncation mutations (PTC) are the most common (50%-70%) type of IDUA mutations and correlate with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce381bdca79f230fcd82ba2c78393ffc
https://pubmed.ncbi.nlm.nih.gov/36332477

Zobrazit plný text záznamu

Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants

Autor: Chantragan Srisomsap, Pisanu Ratanarak, Voraratt Champattanachai, Phannee Sawangareetrakul, Boonchai Boonyawat, Lukana Ngiwsara, Nithiwat Vatanavicharn, James R. Ketudat-Cairns, Jisnuson Svasti, Somporn Liammongkolkul, Pornswan Wasant

Publikováno v: Molecular Biology Reports. 48:2063-2070

Phenylketonuria (PKU) is an autosomal recessive amino acid metabolism disorder caused by variants in the gene encoding phenylalanine hydroxylase (PAH; EC1.14.16.1). This study aimed to assess the specific heterogeneity of PAH variants found in Thai p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a02ba14e723a47f8e2e2767eae2068e
https://doi.org/10.1007/s11033-021-06163-w

Zobrazit plný text záznamu

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

Autor: Duangrurdee Wattanasirichaigoon, Kitiwan Rojnueangnit, Suthipong Pangkanon, Thipwimol Tim-Aroon, Saisuda Noojaroen, Ratana Charoenwattanasatien, Voraratt Champattanachai, Jisnuson Svasti, Lukana Ngiwsara, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Arthaporn Khongkraparn, Chulaluck Kuptanon

Publikováno v: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)
BMC Medical Genetics

BackgroundPompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in humanGAAgene. The objective of the present study was to examine clinical and molecular characteristics of in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7025b4896632a2cd016cfa1158bf5c67
http://link.springer.com/article/10.1186/s12881-019-0878-8

Zobrazit plný text záznamu

Plný text ve formátu HTML

Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants

Autor: Lukana, Ngiwsara, Nithiwat, Vatanavicharn, Phannee, Sawangareetrakul, Somporn, Liammongkolkul, Pisanu, Ratanarak, Boonchai, Boonyawat, Chantragan, Srisomsap, Voraratt, Champattanachai, James, Ketudat-Cairns, Pornswan, Wasant, Jisnuson, Svasti

Publikováno v: Molecular biology reports. 48(3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f622454736c6a5b7bc01b6072f40b424
https://pubmed.ncbi.nlm.nih.gov/33677757

Zobrazit plný text záznamu

Aberrant proteins expressed in skin fibroblasts of Parkinson's disease patients carrying heterozygous variants of glucocerebrosidase and parkin genes

Autor: James R. Ketudat Cairns, Kawinthra Khwanraj, Chantragan Srisomsap, Kittirat Saharat, Daranee Chokchaichamnankit, Voraratt Champattanachai, Phannee Sawangareetrakul, Jisnuson Svasti, Permphan Dharmasaroja, Lukana Ngiwsara, Teeratorn Pulkes

Publikováno v: Biomedical Reports

Parkinson's disease (PD) is a neurodegenerative disorder that affects movement, and its development is associated with environmental and genetic factors. Genetic variants in GBA and PARK2 are important risk factors implicated in the development of PD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::141cebbfaa842c26e2b294fb13af81b4
https://pubmed.ncbi.nlm.nih.gov/33732455

Zobrazit plný text záznamu

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2

Autor: Prapai Dejkhamron, Sissades Tongsima, Jisnuson Svasti, Kanokkan Bumroongkit, James R. Ketudat Cairns, Piranit Nik Kantaputra, Lukana Ngiwsara, Bjorn R. Olsen, Phannee Sawangareetrakul, Worrachet Intachai, Chumpol Ngamphiw

Publikováno v: Archives of oral biology. 119

Objective Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6b536258d15a827788a27950aef080a
https://pubmed.ncbi.nlm.nih.gov/32977150

Zobrazit plný text záznamu

Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay

Autor: Duangrurdee Wattanasirichaigoon, James R. Ketudat Cairns, Jisnuson Svasti, Lukana Ngiwsara, Phannee Sawangareetrakul, Kitiwan Rojnueangnit, Thipwimol Tim‑Aroon, Voraratt Champattanachai

Publikováno v: Experimental and Therapeutic Medicine. 13:2989-2996

Hunter syndrome (or mucopolysaccharidosis type II, MPS II) is an X-linked recessive disorder induced by a deficiency of the iduronate 2-sulfatase (IDS) enzyme, resulting in the accumulation of glycosaminoglycan substrates, heparan sulfate and dermata

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9c15c982ed5dce64281124f797c69921
https://doi.org/10.3892/etm.2017.4303

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání