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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1947 1
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1969 9
1970 5
1971 5
1972 4
1973 5
1974 7
1975 8
1976 6
1977 3
1978 2
1979 2
1980 5
1981 4
1982 6
1983 5
1984 4
1985 10
1986 4
1987 3
1988 5
1989 11
1990 8
1991 5
1992 14
1993 14
1994 14
1995 15
1996 21
1997 28
1998 44
1999 31
2000 53
2001 52
2002 53
2003 55
2004 61
2005 68
2006 53
2007 55
2008 45
2009 41
2010 63
2011 62
2012 65
2013 66
2014 56
2015 59
2016 56
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2026 14

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1,515 results

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Page 1
ROS-dependent S-palmitoylation activates cleaved and intact gasdermin D.
Du G, Healy LB, David L, Walker C, El-Baba TJ, Lutomski CA, Goh B, Gu B, Pi X, Devant P, Fontana P, Dong Y, Ma X, Miao R, Balasubramanian A, Puthenveetil R, Banerjee A, Luo HR, Kagan JC, Oh SF, Robinson CV, Lieberman J, Wu H. Du G, et al. Nature. 2024 Jun;630(8016):437-446. doi: 10.1038/s41586-024-07373-5. Epub 2024 Apr 10. Nature. 2024. PMID: 38599239 Free PMC article.
S-palmitoylation, which does not affect GSDMD cleavage, is augmented by mitochondria-generated reactive oxygen species (ROS). Cleavage-deficient GSDMD (D275A) is also palmitoylated after inflammasome stimulation or treatment with ROS activators and causes pyroptosis, altho …
S-palmitoylation, which does not affect GSDMD cleavage, is augmented by mitochondria-generated reactive oxygen species (ROS). Cleavage-de …
Thrombotic thrombocytopenic purpura.
Kremer Hovinga JA, Coppo P, Lämmle B, Moake JL, Miyata T, Vanhoorelbeke K. Kremer Hovinga JA, et al. Nat Rev Dis Primers. 2017 Apr 6;3:17020. doi: 10.1038/nrdp.2017.20. Nat Rev Dis Primers. 2017. PMID: 28382967 Review.
However, patients who survive an acute episode are at high risk of relapse and of long-term morbidity. A timely diagnosis is vital but challenging, as TTP shares symptoms and clinical presentation with numerous conditions, including, for example, haemolytic uraemic …
However, patients who survive an acute episode are at high risk of relapse and of long-term morbidity. A timely diagnosis is vital bu …
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R. Murali CN, et al. Mol Genet Metab. 2021 Feb;132(2):146-153. doi: 10.1016/j.ymgme.2021.01.005. Epub 2021 Jan 14. Mol Genet Metab. 2021. PMID: 33485800 Free PMC article.
Here, we report six infants with biallelic TRMU variants, including four previously unpublished patients, all treated with exogenous cysteine. We highlight the first report of an affected patient undergoing orthotopic liver transplantation, the long-term effects of cyst …
Here, we report six infants with biallelic TRMU variants, including four previously unpublished patients, all treated with exogenous cyst …
Lysosomal storage diseases.
Glew RH, Basu A, Prence EM, Remaley AT. Glew RH, et al. Lab Invest. 1985 Sep;53(3):250-69. Lab Invest. 1985. PMID: 2993742 Review. No abstract available.
Targeting Cystine Metabolism in the Lung Cancer Environment Enhances the Efficacy of Immune Checkpoint Inhibition.
Xu Y, Li S, Wu J, Xu S, Shen M, Wang C, Andreas L, Yu J, Xu Z, Shi Y, Liu N, Yang Y, Zhao J, Yang Y, Wang P, Yi P, Cheng J, Sun J, Li M, Xiao P, Wang K. Xu Y, et al. Adv Sci (Weinh). 2025 Sep;12(35):e13084. doi: 10.1002/advs.202413084. Epub 2025 Jul 10. Adv Sci (Weinh). 2025. PMID: 40637137 Free PMC article.
Cystine deficiency polarizes macrophages toward an M1 phenotype, secreting more TNF-alpha, CXCL9, and CXCL10. ...Mechanistic studies indicat that cystine deficiency-induced GSH depletion activates NF-kappaB in macrophages by reducing its glutathionylation. ...
Cystine deficiency polarizes macrophages toward an M1 phenotype, secreting more TNF-alpha, CXCL9, and CXCL10. ...Mechanistic studies …
Molybdenum cofactor and human disease.
Schwarz G. Schwarz G. Curr Opin Chem Biol. 2016 Apr;31:179-87. doi: 10.1016/j.cbpa.2016.03.016. Epub 2016 Apr 4. Curr Opin Chem Biol. 2016. PMID: 27055119 Review.
Moco is synthesized by a conserved biosynthetic pathway. Moco deficiency results in a severe inborn error of metabolism causing often early childhood death. Disease-causing symptoms mainly go back to the lack of sulfite oxidase (SO) activity, an enzyme in cystein …
Moco is synthesized by a conserved biosynthetic pathway. Moco deficiency results in a severe inborn error of metabolism causing often …
Recent advances in congenital ichthyoses.
Hernández-Martín A, González-Sarmiento R. Hernández-Martín A, et al. Curr Opin Pediatr. 2015 Aug;27(4):473-9. doi: 10.1097/MOP.0000000000000239. Curr Opin Pediatr. 2015. PMID: 26164154
SUMMARY: The expanding phenotype and genotype of the ichthyoses facilitates accurate clinical diagnosis and permits a deeper knowledge of the epidermal pathophysiology. Although curative treatment is yet to come, N-acetylcysteine has recently been added to the therapeutic …
SUMMARY: The expanding phenotype and genotype of the ichthyoses facilitates accurate clinical diagnosis and permits a deeper knowledg …
Inborn errors in the metabolism of glutathione.
Ristoff E, Larsson A. Ristoff E, et al. Orphanet J Rare Dis. 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. Orphanet J Rare Dis. 2007. PMID: 17397529 Free PMC article. Review.
Gamma-glutamyl transpeptidase deficiency has been found in patients with CNS involvement and glutathionuria. 5-Oxoprolinase deficiency is associated with 5-oxoprolinuria but without a clear association with other symptoms. ...Prenatal diagnosis has bee …
Gamma-glutamyl transpeptidase deficiency has been found in patients with CNS involvement and glutathionuria. 5-Oxoprolinase defici …
A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine beta-synthase deficiency.
Majors AK, Pyeritz RE. Majors AK, et al. Mol Genet Metab. 2000 Aug;70(4):252-60. doi: 10.1006/mgme.2000.3024. Mol Genet Metab. 2000. PMID: 10993712
When arterial smooth muscle cells were cultured under conditions of cysteine deficiency, fibrillin-1 deposition into the ECM was greatly diminished as revealed by immunocytochemistry. ...Type I collagen, the major matrix component synthesized by these smooth muscle …
When arterial smooth muscle cells were cultured under conditions of cysteine deficiency, fibrillin-1 deposition into the ECM w …
Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood.
Byun M, Ma CS, Akçay A, Pedergnana V, Palendira U, Myoung J, Avery DT, Liu Y, Abhyankar A, Lorenzo L, Schmidt M, Lim HK, Cassar O, Migaud M, Rozenberg F, Canpolat N, Aydogan G, Fleckenstein B, Bustamante J, Picard C, Gessain A, Jouanguy E, Cesarman E, Olivier M, Gros P, Abel L, Croft M, Tangye SG, Casanova JL. Byun M, et al. J Exp Med. 2013 Aug 26;210(9):1743-59. doi: 10.1084/jem.20130592. Epub 2013 Jul 29. J Exp Med. 2013. PMID: 23897980 Free PMC article.
We report here autosomal recessive OX40 deficiency in an otherwise healthy adult with childhood-onset classic KS. OX40 is a co-stimulatory receptor expressed on activated T cells. ...The mutant OX40 protein was poorly expressed on the cell surface and failed to bind OX40L, …
We report here autosomal recessive OX40 deficiency in an otherwise healthy adult with childhood-onset classic KS. OX40 is a co-stimul …
1,515 results