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.
29 citations
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
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.
3 citations
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January 1984 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.
113 citations
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June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
6 citations
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July 2021 in “Frontiers in Genetics” A gene variant causes a skin and hair disorder by disrupting protein balance.
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.
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.
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” 125 citations
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February 1971 in “Biochemistry” Specific cross-linkages help make hair proteins stable and strong.
1 citations
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July 1990 in “European Journal of Pharmacology” 26 citations
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January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
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.
49 citations
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January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” 21 citations
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August 2002 in “British Journal of Ophthalmology”
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.
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.
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.
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.
15 citations
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October 1936 in “Archives of Dermatology” Cystine is crucial for forming keratin in hair, wool, and nails.
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.
1 citations
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January 1984 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.