Journal of Steroid Biochemistry and Molecular Biology最新文献

{"title":"NAT10 mediated polycystic ovary syndrome through the ac4C modification of CXCL14","authors":"Ding Wang,&nbsp;Hui Li,&nbsp;Qiaoling Wang,&nbsp;Yunxia Liu","doi":"10.1016/j.jsbmb.2025.106767","DOIUrl":"10.1016/j.jsbmb.2025.106767","url":null,"abstract":"<div><div>Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder among women of reproductive age, underscoring the critical importance of investigating its regulatory mechanisms. N-Acetyltransferase 10 (NAT10) is a crucial enzyme involved in mRNA acetylation modification, mediating target genes expression through N4-acetylcytidine (ac4C) modification to regulate the biological function of various diseases. Nonetheless, the specific role of NAT10 in PCOS regulation remains undisclosed. Ac4C dot hybridization experiment was conducted to determine ac4C expression in PCOS tissues. RT-qPCR was employed to assess the expression levels of NAT10 and CXCL14 in PCOS tissues and KGN cells. Cells viability was assessed using the CCK-8 method, while cell proliferation capacity was evaluated through the colony formation assay and EDU assay. Flow cytometry analysis was utilized to measure the apoptosis rate. The ac4C modification level was determined by acrp-qPCR analysis. RIP and luciferase reporter experiments confirmed the target binding relationship. The rat experiments confirmed the specific regulatory role of NAT10 in polycystic ovary syndrome in vivo. This study highlighted reduced levels of NAT10 and ac4C in PCOS, where silencing NAT10 boosts KGN cell proliferation and suppresses apoptosis. Additionally, NAT10-mediated ac4C modification governed the chemokine CXCL14 expression. Our research unveiled that NAT10 modulated PCOS occurrence and progression by enhancing the CXCL14 mRNA stability through acetylation, presenting potential novel insights into the mechanisms of mRNA acetylation in PCOS.</div></div>","PeriodicalId":51106,"journal":{"name":"Journal of Steroid Biochemistry and Molecular Biology","volume":"251 ","pages":"Article 106767"},"PeriodicalIF":2.7,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143887407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic potential of enzymes, neurosteroids, and synthetic steroids in neurodegenerative disorders: A critical review","authors":"Refik Servi ,&nbsp;Ramazan Fazıl Akkoç ,&nbsp;Feyza Aksu ,&nbsp;Süleyman Servi","doi":"10.1016/j.jsbmb.2025.106766","DOIUrl":"10.1016/j.jsbmb.2025.106766","url":null,"abstract":"<div><div>Neurodegenerative disorders present a significant challenge to healthcare systems, mainly due to the limited availability of effective treatment options to halt or reverse disease progression. Endogenous steroids synthesized in the central nervous system, such as pregnenolone (PREG), dehydroepiandrosterone (DHEA), progesterone (PROG), and allopregnanolone (ALLO), have been identified as potential therapeutic agents for neurodegenerative diseases. Neurosteroids such as ALLO, DHEA, and PROG, as well as their synthetic analogs like Ganaxolene, Fluasterone, and Olexoxime, offer promising effects for conditions such as Alzheimer's disease (AD) and depression. Moreover, Brexanolone and Ganaxolone are synthetic steroids approved for the treatment of postpartum depression and epilepsy, respectively. Neurosteroids such as ALLO are crucial in modulating GABAergic neurotransmission and reducing neuroinflammation. These compounds enhance the activity of GABA-A receptors, leading to increased inhibitory signaling in the brain, which can help regulate mood, cognition, and neuroprotection. Small clinical trials and observational studies indicate that ALLO may have cognitive benefits, but no large-scale, definitive meta-analysis confirms a 20 % improvement in AD patients. Mitochondrial dysfunction plays a vital role in the pathogenesis of numerous neurological diseases due to the high-energy demand and sensitivity of neurons to oxidative stress. Reduced mitochondrial function leads to amyloid-beta plaques and tau tangles accumulation in AD. In Parkinson's disease (PD), mitochondrial dysfunction resulting from the PINK1 or Parkin genes leads to energy deficiencies and the accumulation of toxic byproducts. Mutations in genes such as SOD1, C9orf72, and TDP-43 have been associated with mitochondrial dysfunction in amyotrophic lateral sclerosis (ALS). Moreover, studies on these neurodegenerative diseases suggest that inflammation is not merely a consequence of neurodegeneration but is also an essential factor in this process. Many neurological disorders involve multifaceted interactions between genetics, the environment, and immune responses, making it difficult to pinpoint their exact causes. Future research aims to overcome these hurdles through genetic advances, regenerative medicine, and personalized therapies. Cutting-edge technologies such as artificial intelligence and high-throughput screening are expected to accelerate drug discovery and improve diagnostic accuracy. Increasing collaboration between interdisciplinary fields such as bioinformatics, neuroscience, and immunology will lead to innovative treatment strategies. This comprehensive review discusses the therapeutic effects of enzymes, neurosteroids, and synthetic steroids in different neurodegenerative diseases, particularly AD, PD, ALS, and MS. Potential challenges in the therapeutic use of neurosteroids, such as the limited bioavailability and off-target effects of synthetic steroids, are a","PeriodicalId":51106,"journal":{"name":"Journal of Steroid Biochemistry and Molecular Biology","volume":"251 ","pages":"Article 106766"},"PeriodicalIF":2.7,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143877103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low serum 25-hydroxy-vitamin D levels are associated with metabolic syndrome in a representative community population from Macau, China","authors":"Kaye E. Brock ,&nbsp;Elias Mpofu ,&nbsp;Shalinie King ,&nbsp;Rebecca S. Mason ,&nbsp;Michael J. Dibley ,&nbsp;Liang Ke","doi":"10.1016/j.jsbmb.2025.106765","DOIUrl":"10.1016/j.jsbmb.2025.106765","url":null,"abstract":"<div><div>Asians, especially Chinese have an increasingly high prevalence of vitamin D deficiency and insufficiency (serum 25-hydroxy-vitamin D 25(OH)D &lt; 30 nmol/L and &lt; 50 nmol/L, respectively). This population group also has a high prevalence of cardiometabolic risk factors such as Myocardial Infarction (MI), Metabolic Syndrome (MetS) and low blood levels of high-density lipoproteins (HDL) and high blood levels of triglycerides (TG). The aim of this analysis was to investigate these associations in a population from Macau, China. Blood, anthropometric, and physical data were collected from 1410 randomly selected residents of Macau. In this population, (55 % female, 19–89 years) 54 % were vitamin D insufficient. Results from categorical multivariate regression analyses (adjusted for age, sex, and physical activity, sitting and sunlight exposure) indicated significant two-fold associations between vitamin D insufficiency and prevalence of MI, MetS and low HDL and high TG levels. These associations became stronger when investigated with vitamin D deficiency (25(OH)D &lt; 30 nmol/L). The association between cardiometabolic factors and vitamin D deficiency in those older (≥60 yrs) increased markedly to OR MI= 9.48 (2.62–34.32), OR MetS= 7.82 (3.31–18.46) and OR low HDL= 8.68 (1.56–21.16) and OR high TG= 2.37 (1.07–5.25). These interesting observational findings suggest high vulnerability to lower 25(OH)D levels with related health disparities affecting older Asians. Integration of public health measures to detect vitamin D deficiency and insufficiency in Macau is important, and we suggest that routine health screening including serum 25(OH)D, HDL and TG in China may be protective for those at higher risk for related cardiometabolic conditions.</div></div>","PeriodicalId":51106,"journal":{"name":"Journal of Steroid Biochemistry and Molecular Biology","volume":"252 ","pages":"Article 106765"},"PeriodicalIF":2.7,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144042665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the effects of estrogens on endometrial cancer cells of different grades","authors":"Renata Pavlič,&nbsp;Maja Novak Pušić,&nbsp;Tea Lanišnik Rižner","doi":"10.1016/j.jsbmb.2025.106762","DOIUrl":"10.1016/j.jsbmb.2025.106762","url":null,"abstract":"<div><div>Endometrial cancer (EC) is the most common gynecological malignancy in the Western world. The molecular basis and effects of various agents are frequently studied in model EC cell lines, but the most commonly used cell lines Ishikawa, HEC-1-A, RL95–2 and KLE have not been thoroughly and systematically investigated. We characterized EC cell lines of different grades by reassessing the expression of estrogen receptors ERα, ERβ, and GPER by qPCR and Western blot and investigated the effects of estrogens, estrone-sulfate, estrone and estradiol on their proliferation, migration, and clonogenicity. Estradiol promoted the proliferation of grade 1 Ishikawa EC cells and grade 2 RL95–2 cells. Estrone and estrone sulfate also stimulated the proliferation of Ishikawa, showed a tendency to increase the proliferation of HEC-1-A and RL95–2 cells, but decreased the proliferation of KLE. Estrogens had no effect on the migration and clonogenicity of these four EC cell lines, however, there was a trend toward a smaller colony area for cells incubated with higher estrogen concentrations. We have previously shown that in EC estradiol forms from inactive estrone sulfate via the sulfatase pathway. This study showed that estrogens significantly promote the proliferation of grade 1 Ishikawa EC cells, and grade 2 RL95–2 and decrease the proliferation of grade 3 KLE cells. These differences in proliferation were associated with ERα positivity of Ishikawa cells and GPER expression in other cells.</div></div>","PeriodicalId":51106,"journal":{"name":"Journal of Steroid Biochemistry and Molecular Biology","volume":"251 ","pages":"Article 106762"},"PeriodicalIF":2.7,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143852205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Follicular fluid concentrations of the vitamin D metabolite 24,25(OH)2D3 are positively associated with live birth rate after assisted reproductive technology","authors":"Ireen Kooij ,&nbsp;Rune Holt ,&nbsp;Li Juel Mortensen ,&nbsp;Mette Lorenzen ,&nbsp;Ursula Bentin-Ley ,&nbsp;Hans Krog ,&nbsp;Anders Hayden Berg ,&nbsp;Anders Juul ,&nbsp;Stine Gry Kristensen ,&nbsp;Anne Jørgensen ,&nbsp;Martin Blomberg Jensen","doi":"10.1016/j.jsbmb.2025.106764","DOIUrl":"10.1016/j.jsbmb.2025.106764","url":null,"abstract":"<div><h3>Objective</h3><div>To investigate the relationship between concentrations of vitamin D metabolites in follicular fluid and outcome of assisted reproductive technology (ART) treatment.</div></div><div><h3>Design</h3><div>Prospective cohort study including 116 women undergoing <em>in vitro</em> fertilization (IVF) or intra cytoplasmic sperm injection (ICSI) treatment.</div></div><div><h3>Results</h3><div>All measured vitamin D metabolites 25OHD₃, 1,25(OH)₂D₃ and 24,25(OH)₂D₃ are detectable in follicular fluid. Follicular fluid concentration of the 24,25(OH)₂D₃ metabolite was higher than corresponding serum values, while the opposite phenomenon was observed for the 1,25(OH)₂D₃ metabolite. Local conversion is plausible as the vitamin D activating enzymes (CYP2R1 and CYP27B1) as well as the vitamin D receptor (VDR) are highly expressed in the developing follicle. Women who achieved a live birth had 29 % higher 24,25(OH)₂D₃ and 15 % higher 25OHD₃ concentrations in their follicular fluid (18 ± 7.9 versus 14 ± 6.2 nmol/L, p = 0.008 and 71 ± 22 versus 62 ± 18 nmol/L, p = 0.025, respectively) compared to women not achieving a live birth. Moreover, women with a low (≤ 15 %) follicular fluid 1,25(OH)₂D₃/24,25(OH)₂D₃ ratio had a higher live birth rate compared to women with a medium (16–84 %) or high (≥ 85 %) ratio (live birth rate: 53 % vs 29 % and 12 %, respectively, p = 0.032).</div></div><div><h3>Conclusion</h3><div>This study reveals that high levels of 24,25(OH)₂D₃ and low levels of the 1,25(OH)₂D₃/24,25(OH)₂D₃ ratio in follicular fluid are associated with increased live birth rates in women undergoing IVF/ICSI treatment. Conversion of vitamin D metabolites systemically or in the ovarian follicle may affect ART outcome. Further studies are warranted to support the findings from this pilot study and identify regulators of ovarian vitamin D metabolites.</div></div>","PeriodicalId":51106,"journal":{"name":"Journal of Steroid Biochemistry and Molecular Biology","volume":"251 ","pages":"Article 106764"},"PeriodicalIF":2.7,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143848543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Purification and biochemical characterization of mutant ligand binding domain of human estrogen receptor α protein","authors":"Murugesan Palaniappan ,&nbsp;Kurt M. Bohren","doi":"10.1016/j.jsbmb.2025.106763","DOIUrl":"10.1016/j.jsbmb.2025.106763","url":null,"abstract":"<div><div>The acquisition of mutations in the estrogen receptor alpha (ERα) gene (ESR1) is a key driver in the development of resistance to current endocrine therapy in breast cancer. Clinical studies have shown that ESR1 mutations are frequently observed in patients with metastatic ER-positive breast cancer and are associated with poor survival. Activating ESR1 somatic mutations, particularly Y537S and D538G, drive estrogen-independent activities in cell-based studies and these mutant receptors are less sensitive to current endocrine therapies. Here, we describe the bacterial expression and purification of the ligand binding domains of wild-type, Y537S, and D538G human ERα proteins. The biochemical activities of these domains were confirmed by homogeneous time-resolved fluorescence and polar screen ERα competition assays. The wild-type domain binds to coactivator peptides only in the presence of the ligand estradiol, whereas the Y537S or D538G domains bind coactivator peptides spontaneously even without estradiol, with the Y537S domain showing higher affinity. Thermal shift assays showed that the mutations stabilized these domains. Our purified human ERα wild-type, Y537S, and D538G ligand binding domains recapitulate the biological activities ascribed to the full-length proteins and can therefore be used for small molecule screens that seek to discriminate between wild-type and mutant ERα.</div></div>","PeriodicalId":51106,"journal":{"name":"Journal of Steroid Biochemistry and Molecular Biology","volume":"251 ","pages":"Article 106763"},"PeriodicalIF":2.7,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143837842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contribution of different vitamin D forms and fortified foods to vitamin D intake in Europe: A narrative review","authors":"Maaike J. Bruins","doi":"10.1016/j.jsbmb.2025.106761","DOIUrl":"10.1016/j.jsbmb.2025.106761","url":null,"abstract":"<div><div>In the current narrative review, the bioavailability of the main vitamin D forms is evaluated. The mean intakes and main contributing forms of vitamin D in the European diet are estimated, as well as the major contributing dietary sources. The literature is reviewed for studies reporting on the proportion of users and non-users of fortified food with vitamin D intakes below reference intakes. In addition, the availability of vitamin D-fortified prepackaged retail products and fortification levels in the European market is assessed. Previously, vitamins D2 and D3 forms were considered the primary forms in the diet. Recent analytical methods suggest that dietary 25(OH)D3, when adjusted for higher bioequivalence, significantly contributes to total vitamin D intakes. When also considering 25(OH)D3 from foods, the estimated vitamin D intake from an average European diet was 3.8 µg/d of total Vitamin D Equivalents: vitamin D3, vitamin D2 and 25(OH)D3, contributing about 71 %, 2 %, and 27 %, respectively. Animal foods, fortified fats and spreads contributed most to total intakes. Literature suggests that 94–100 % of Europeans aged ≥ 13 y fail to meet the vitamin D reference intake of 10 µg/d. About 98–100 % of vitamin D-fortified food users and 99–100 % of non-users in the UK and Netherlands consumed less than 10 µg/d of vitamin D. About 1.2 % of prepackaged foods and drinks were voluntary fortified with vitamin D, margarine and plant-based drinks providing most of the daily vitamin D. Encouraging fortification and other strategies may support closing the gap between current and recommended vitamin D intakes.</div></div>","PeriodicalId":51106,"journal":{"name":"Journal of Steroid Biochemistry and Molecular Biology","volume":"251 ","pages":"Article 106761"},"PeriodicalIF":2.7,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143829828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The distinctive P450 oxidoreductase (PORD) urinary steroid metabolome in the first week of life: Report of three cases with severe disorder","authors":"E.S. Baranowski ,&nbsp;J. Idkowiak ,&nbsp;J. Waterson ,&nbsp;A. D’Harlingue ,&nbsp;A.H. Olney ,&nbsp;H.E. Ivison ,&nbsp;B.A. Hughes ,&nbsp;J.W. Mueller ,&nbsp;W. Arlt ,&nbsp;C.H.L. Shackleton","doi":"10.1016/j.jsbmb.2025.106760","DOIUrl":"10.1016/j.jsbmb.2025.106760","url":null,"abstract":"<div><div>P450 oxidoreductase (POR) facilitates electron flux to type 2 microsomal P450 cytochrome enzymes (CYPs), including the adrenal steroidogenic enzymes CYP17A1 and CYP21A2. Due to the combined impairment of these enzymes, POR deficiency (PORD), an autosomal recessive condition, results in congenital adrenal hyperplasia characterised by combined glucocorticoid and postnatal sex steroid deficiency. This study focuses on urinary steroid excretion in infants affected by PORD in the first week of life. We report on three neonatal PORD cases from two families. One family had two affected babies born three years apart who were stillborn and first-day deceased, respectively. DNA sequencing revealed a homozygous 3 bp deletion in exon six leading to an glutamic acid deletion (p.[Glu217del]). Bladder contents were obtained from the stillborn baby, and excreted urine was obtained from the second baby. In a second family, their second affected newborn, antenatally diagnosed carrying the common homozygous p.(Ala287Pro) mutation, had urine collected daily during the first week of life. Steroid excretions were quantified by gas chromatography-mass spectrometry (GC-MS). The birth-day excretions were very similar in all babies. Most notable and unusual was a large excretion of unmetabolised corticosterone, suggesting inhibited catabolism to allow maximum active gluco- and mineralocorticoid availability at birth. Because CYP3A7 (16α-hydroxylase) requires POR, there was an almost complete absence of usually dominant 3β-hydroxy-Δ⁵ steroids (16α-OH-DHEA and 16α-OH-pregnenolone) and the usually characteristic precursor pregnenolone metabolite 5-pregnene-3β,20α-diol (pregnenediol, 5PD). In the baby sequentially studied over a week, we observed gradual maturation to the typical and familiar PORD neonatal metabolome. At the end of the period, the minimally catabolised corticosterone had diminished, and steroid excretion was completely dominated by 5PD, excreted as both mono- and disulphate conjugates. Whether this metabolome is distinctive of all PORD infants, not just those with severe manifestation, is not known. On the first day of life, standard diagnostic markers are compromised due to fetal-placental-maternal contribution and unique neonatal steroid metabolism. However, the Day 1 PORD steroid metabolome remains distinctive, and we propose using additional biochemical markers reflective of the near complete reduction of POR-dependent CYP3A7 (16α-hydroxylase) activity to improve diagnostic yield.</div></div>","PeriodicalId":51106,"journal":{"name":"Journal of Steroid Biochemistry and Molecular Biology","volume":"251 ","pages":"Article 106760"},"PeriodicalIF":2.7,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143837841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants","authors":"Nicole M. Fenton,&nbsp;Laura J. Sharpe,&nbsp;Dylan M. Fitzsimmons,&nbsp;Isabelle M. Capell-Hattam,&nbsp;Andrew J. Brown","doi":"10.1016/j.jsbmb.2025.106758","DOIUrl":"10.1016/j.jsbmb.2025.106758","url":null,"abstract":"<div><div>Cholesterol is essential to human life. Perturbations to any of the 22 cholesterol synthesis enzymes can lead to devastating developmental diseases. Each enzyme is exquisitely regulated both transcriptionally and post-translationally, playing a critical role in providing cholesterol to cells. We examined 13 missense mutations and one deletion mutation in the cholesterol synthesis enzyme NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like), known to cause the X-linked developmental disorders CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome and CK syndrome. Little is known about the effect of these missense mutations on the stability and function of NSDHL. Here we show that protein expression levels were low for all mutants, but some could be rescued by a lower temperature (30°C <em>vs.</em> 37°C) and/or the chemical chaperone glycerol. Additionally, heat shock proteins 70 and 90 are needed for optimal NSDHL protein expression suggesting that disease mutations in NSDHL may interfere with this interaction, perhaps during translation resulting in lower protein synthesis. Our findings that these disease-causing mutations reduce NSDHL protein expression, but some respond to lower temperature and/or the chemical chaperone glycerol, can help inform future treatments for CHILD and CK syndrome.</div></div>","PeriodicalId":51106,"journal":{"name":"Journal of Steroid Biochemistry and Molecular Biology","volume":"251 ","pages":"Article 106758"},"PeriodicalIF":2.7,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143835050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to “Comparison of 7-dehydrocholesterol and cholesterol in whole blood vs. plasma samples for diagnosis of SLOS” [J. Steroid Biochem. Mol. Biol. 248 (2025) 106682]","authors":"Yulan Rao","doi":"10.1016/j.jsbmb.2025.106743","DOIUrl":"10.1016/j.jsbmb.2025.106743","url":null,"abstract":"","PeriodicalId":51106,"journal":{"name":"Journal of Steroid Biochemistry and Molecular Biology","volume":"251 ","pages":"Article 106743"},"PeriodicalIF":2.7,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143932223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}