81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
48 citations
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January 2011 in “Neuropharmacology” Isolation stress in rats reduces brain enzyme levels, affecting dopamine function.
70 citations
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March 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” This study discusses the potential of targeting 11β-HSD1 for treating metabolic syndrome and highlights emerging promising data from human trials on selective 11β-HSD1 inhibitors.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.
January 2015 in “DSpace@MIT (Massachusetts Institute of Technology)” This study found that overexpression of the metabolic enzyme PHGDH can promote cancer initiation and progression, highlighting its significant role in tumor cell proliferation and tumorigenesis.
October 2013 in “DOAJ (DOAJ: Directory of Open Access Journals)” 29 citations
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July 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that in mouse hair follicles, enzymes Aldh1a2 and Aldh1a3 have distinct expression patterns that suggest they are involved in different signaling pathways during the hair cycle.
1 citations
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October 2013 in “Our Dermatology Online” This study found that individuals in this Egyptian cohort carrying the leucine (L) allele of the 5-α reductase type II enzyme had a higher risk of developing androgenetic alopecia, which may be associated with oxidative stress.
9 citations
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February 2002 in “PubMed” This study identified a novel mutation in the coproporphyrinogen oxidase gene, contributing to hereditary coproporphyria in a family, with decreased enzyme activity observed in the affected members.
This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.
11 citations
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November 2014 in “Behavior Genetics” 39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.
August 2024 in “Latin American Journal of Development” In this review, the authors highlight the involvement of the 5α-reductase enzyme family in androgen-dependent disorders, noting the discovery of a novel isoform, SRD5A3, which is overexpressed in cancers with poor prognosis.
4 citations
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October 2024 in “Heliyon” This study characterized the CYP154C7 enzyme from *Streptomyces* sp. PAMC26508, highlighting its ability to hydroxylate steroids efficiently, particularly androstenedione, and identified key amino acids important for substrate selectivity and catalytic efficiency.
62 citations
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April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that structural and biochemical analysis of steroid 5α-reductases clarifies how they mediate steroid reduction with NADPH, potentially aiding in designing targeted therapies.
13 citations
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June 2006 in “Fertility and Sterility” This research identified nonclassic 21-hydroxylase deficiency as the most common genetic autosomal recessive disorder in humans, particularly among certain ethnic groups, and found that treatment effectively reverses symptoms within months.
1 citations
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July 1997 in “The Lancet” This study suggests that a newly discovered protein, AMY117, found in Alzheimer's disease brain lesions may be crucial in the disease's development and progression.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers found that stabilizing the protein HIF1A in hair follicles promotes glycolysis over oxidative phosphorylation, potentially reducing oxidative stress and supporting hair growth.
September 2023 in “Nature communications” This study found that VE-cadherin and Alk1, traditionally linked to vascular functions, also play crucial roles in maintaining nerve homeostasis in mice during hair growth cycles by modulating certain cell populations.
3 citations
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May 1990 in “Journal of Steroid Biochemistry” This study found that diagnosing non-classical 3 beta-hydroxysteroid dehydrogenase deficiency solely based on elevated serum or urinary 5-ene-steroids may not be reliable.
19 citations
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September 2013 in “Psychoneuroendocrinology” Blocking CYP17A1 enzyme may help improve certain brain function issues related to dopamine.
May 2025 in “Frontiers in Genetics” This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
8 citations
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June 2023 in “European Journal of Endocrinology” This study identified serum androsterone as a robust biomarker for monitoring response to AKR1C3 inhibitor treatment in women and found that a 4-week administration of aldo-keto reductase 1C3 inhibitors did not impact ovarian function.
59 citations
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May 2017 in “Scientific reports” This study found that ZDHHC13 deficiency in mice is associated with abnormal liver function, lipid metabolism issues, and impaired mitochondrial function, highlighting ZDHHC13's regulatory role in liver metabolism.
9 citations
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March 1999 in “Der Hautarzt” Type 2 5α-reductase plays a key role in hair loss.