December 2024 in “The Eurasia Proceedings of Science Technology Engineering and Mathematics” Higher ꝩ-GCS enzyme levels in PCOS patients may play a role in the disease.
100 citations
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March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
44 citations
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January 1984 in “Molecular and Cellular Biochemistry”
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
29 citations
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
53 citations
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June 1983 in “Journal of Investigative Dermatology” The enzyme is crucial for skin cell development and can be activated without proteolytic activation.
1 citations
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January 1971 in “Acta dermato-venereologica” Mice hair follicles take in the amino acid cystine.
54 citations
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January 1984 in “Molecular and Cellular Biochemistry” 113 citations
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June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
3 citations
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January 1984 49 citations
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January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” 10 citations
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May 1974 in “American journal of diseases of children” The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
14 citations
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November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
26 citations
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January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
22 citations
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November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cystatin M/E helps in the final stages of hair and nail formation by controlling certain enzymes.
January 2024 in “JAAD case reports” MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
125 citations
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February 1971 in “Biochemistry” Specific cross-linkages help make hair proteins stable and strong.
Lysine carboxymethyl cysteinate (LCC) protects skin from UVB damage by activating autophagy.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
15 citations
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October 1936 in “Archives of Dermatology” Cystine is crucial for forming keratin in hair, wool, and nails.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
83 citations
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July 2008 in “Current Opinion in Chemical Biology” The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.
1 citations
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July 1990 in “European Journal of Pharmacology” 22 citations
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November 2014 in “Proteins Structure Function and Bioinformatics” Cysteines in wool fibers are accessible and form important disulfide bonds.
35 citations
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August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
138 citations
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December 1976 in “Journal of Biological Chemistry” The enzyme from human skin can cross-link proteins and needs calcium to work.
7 citations
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January 1997 in “Bioscience Biotechnology and Biochemistry” Sheep hair follicle transglutaminases are calcium-dependent.