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Akademický článek

Normal transferrin glycosylation does not rule out severe ALG1 deficiency

Autor: Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, Eva Morava

Publikováno v: JIMD Reports, Vol 65, Iss 3, Pp 135-143 (2024)

Abstract ALG1‐CDG is a rare, clinically variable metabolic disease, caused by the defect of adding the first mannose (Man) to N‐acetylglucosamine (GlcNAc2)‐pyrophosphate (PP)‐dolichol to the growing oligosaccharide chain, resulting in impaire

Externí odkaz: https://doaj.org/article/e5fbbdd8927e4a12b4f5fdfee8614d2c

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Akademický článek

A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.

Autor: Xue, Yan^1,2 (AUTHOR), Zhao, Yiran^3,4 (AUTHOR), Wu, Bo⁵ (AUTHOR), Shu, Jianbo^1,2 (AUTHOR), Yan, Dandan^1,2 (AUTHOR), Li, Dong⁵ (AUTHOR), Yu, Xiaoli⁵ (AUTHOR) yxlniu@163.com, Cai, Chunquan^1,2 (AUTHOR) cqcns6@126.com

Publikováno v: Molecular Genetics & Genomic Medicine. Aug2023, Vol. 11 Issue 8, p1-14. 14p.

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Akademický článek

A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review

Autor: Yan Xue, Yiran Zhao, Bo Wu, Jianbo Shu, Dandan Yan, Dong Li, Xiaoli Yu, Chunquan Cai

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)

Abstract Background The congenital disorder of glycosylation associated with ALG1 (ALG1‐CDG) is a rare autosomal recessive disease. Due to the deficiency of β1,4 mannosyltransferase caused by pathogenic variants in ALG1 gene, the assembly and proc

Externí odkaz: https://doaj.org/article/d27c9e3284a14278ba8711ca36f24912

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Akademický článek

Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.

Autor: Quinlan A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA., Rodan L; Department of Genetics, Boston Children's Hospital, Boston, Massachusetts, USA., Barkoudah E; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Cerebral Palsy and Spasticity Center, Boston Children's Hospital, Boston, Massachusetts, USA., Tam A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Saffari A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Shammas I; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Ranatunga W; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Morava-Kozicz E; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Oglesbee D; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Berry G; Department of Genetics, Boston Children's Hospital, Boston, Massachusetts, USA., Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Cerebral Palsy and Spasticity Center, Boston Children's Hospital, Boston, Massachusetts, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Feb; Vol. 197 (2), pp. e63890. Date of Electronic Publication: 2024 Sep 26.

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Akademický článek

Production of 4-Deoxy-L- erythro -5-Hexoseulose Uronic Acid Using Two Free and Immobilized Alginate Lyases from Falsirhodobacter sp. Alg1.

Autor: Tanaka, Yuzuki¹ (AUTHOR) 521m308@m.mie-u.ac.jp, Murase, Yoshihiro¹ (AUTHOR) xxx.3569ys@gmail.com, Shibata, Toshiyuki^1,2 (AUTHOR) shibata@bio.mie-u.ac.jp, Tanaka, Reiji^1,2 (AUTHOR) tanakar@bio.mie-u.ac.jp, Mori, Tetsushi³ (AUTHOR) moritets@go.tuat.ac.jp, Miyake, Hideo^1,2 (AUTHOR) miyake@bio.mie-u.ac.jp

Publikováno v: Molecules. May2022, Vol. 27 Issue 10, p3308-3308. 9p.

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Akademický článek

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Akademický článek

Production of 4-Deoxy-L-erythro-5-Hexoseulose Uronic Acid Using Two Free and Immobilized Alginate Lyases from Falsirhodobacter sp. Alg1

Autor: Yuzuki Tanaka, Yoshihiro Murase, Toshiyuki Shibata, Reiji Tanaka, Tetsushi Mori, Hideo Miyake

Publikováno v: Molecules, Vol 27, Iss 10, p 3308 (2022)

Falsirhodobacter sp. alg1 expresses two alginate lyases, AlyFRA and AlyFRB, to produce the linear monosaccharide 4-deoxy-L-erythro-5-hexoseulose uronic acid (DEH) from alginate, metabolizing it to pyruvate. In this study, we prepared recombinant AlyF

Externí odkaz: https://doaj.org/article/dd2b158d3e17490f9282de2b2e5b4d81

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