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Oxidative damage and mitochondrial dysfunction in cystathionine beta-synthase deficiency.

• Authors : Balci, Mehmet Cihan^1,2 (AUTHOR) ; Gedikbasi, Asuman³ (AUTHOR); Dogan, Sukru Anil⁴ (AUTHOR)

• Source: Scientific Reports. 11/21/2024, Vol. 14 Issue 1, p1-8. 8p.

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A Study to Investigate Efficacy and Safety of Pegtibatinase Compared With Placebo in Participants ≥12 to ≤65 Years of Age With Classical Homocystinuria (HCU) Due to Cystathionine Beta Synthase Deficiency Receiving Standard of Care Treatment (HARMONY)

• Source: A Phase 3, Parallel-Group Treatment, Blinded, Randomized, Placebo-Controlled Study To Assess The Efficacy And Safety Of Pegtibatinase Administered Subcutaneously In Addition To Standard Of Care In

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Pegtibatinase As an Enzyme Therapy for Patients with Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (COMPOSE)

• Source: A Double Blind, Randomized, Placebo-controlled, Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Effects on Clinical Outcomes of Pegtibatinase (TVT-058),

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Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)

• Source: A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-

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Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants

• Authors : Renata Collard; Tomas Majtan

Subjects: Cystathionine; Proteostasis; Humans

• Source: Mol Cell Biol

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Post-Traumatic Expressions of Aromatase B, Glutamine Synthetase, and Cystathionine-Beta-Synthase in the Cerebellum of Juvenile Chum Salmon, Oncorhynchus keta.

• Authors : Pushchina, Evgeniya V.¹ (AUTHOR) ; Bykova, Mariya E.¹ (AUTHOR); Varaksin, Anatoly A.¹ (AUTHOR)

Subjects: *Glutamine synthetase; *Oncorhynchus; *Aromatase

• Source: International Journal of Molecular Sciences. Mar2024, Vol. 25 Issue 6, p3299. 40p.

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Cellular turnover and degradation of the most common missense cystathionine beta‐synthase variants causing homocystinuria

• Authors : Ela Mijatovic; Kelly Ascenção; Csaba Szabo

Subjects: 0301 basic medicine; Proteasome Endopeptidase Complex; 03 medical and health sciences

• Source: Protein Sci

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A refined total capsular bag suspension technique for lens subluxation from cystathionine beta-synthase deficiency: A case report and literature review

• Authors : Yuezhu Lu; Yang Jiang; Zaowen Wang

Subjects: Cystathionine beta-synthase (CBS); Homocystinuria; Ectopia lentis

• Source: American Journal of Ophthalmology Case Reports, Vol 34, Iss , Pp 102042- (2024)

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A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase

• Authors : Sun, Song; Weile, Jochen; Verby, Marta

Subjects: Genetics; Biotechnology; Prevention

• Source: Genome Medicine. 12(1)

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Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function

• Authors : Tomas Majtan; Thomas Olsen; Jitka Sokolova

Subjects: Cystathionine beta-synthase; Homocystinuria; Methionine restriction

• Source: Redox Biology, Vol 73, Iss , Pp 103222- (2024)

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