Zobrazeno 1 - 10
of 1 996
pro vyhledávání: '"B. Kunst"'
Publikováno v:
Tobacco Induced Diseases. Sep2024, Vol. 22, p1-10. 10p.
Autor:
Catherine B. Kunst
Publikováno v:
The American Journal of Human Genetics. 75:933-947
This work was supported by National Institutes of Health grant NS041646. I would like to thank Dr. David Patterson, Dr. Patrick Bosque, Dr. Miles Brennan, and Sharon Trilk, for helpful comments and corrections.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e44d2a75ecb54294e9acff7bbc82774
https://doi.org/10.1086/426001
https://doi.org/10.1086/426001
Publikováno v:
Genomics. 70:181-189
Mutations in the cytoplasmic Cu/Zn superoxide dismutase (SOD1) gene on human chromosome 21q22.1 cause 10-20% of familial amyotrophic lateral sclerosis (ALS) cases. The expression of the ALS phenotype in mice carrying the murine G86R SOD1 mutation is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::331404c4430bc03a0ec1cb8666ae38d4
https://doi.org/10.1006/geno.2000.6379
https://doi.org/10.1006/geno.2000.6379
Publikováno v:
Journal of Biological Chemistry. 275:33771-33776
Insertion of copper into superoxide dismutase 1 (SOD1) in vivo requires the copper chaperone for SOD1 (CCS). CCS encompasses three protein domains: copper binding Domains I and III at the amino and carboxyl termini, and a central Domain II homologous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10d73472d4d7a1d45ac455819290ed2a
https://doi.org/10.1074/jbc.m006254200
https://doi.org/10.1074/jbc.m006254200
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Autor:
Stephen T. Warren, Catherine B. Kunst
Publikováno v:
Cell. 77:853-861
Fragile X syndrome results from the expansion of a CGG repeat that is normally interrupted by occasional AGG triplets. Linkage disequilibrium suggests that certain normal haplotypes may contribute unequally to the pool of fragile X chromosomes. Seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90578dfa79ec1a702443e8933df13a6a
https://doi.org/10.1016/0092-8674(94)90134-1
https://doi.org/10.1016/0092-8674(94)90134-1
Autor:
Martínez-Bacaicoa, Jone1 jonemarbac@gmail.com, Henry, Nicola2, Mateos-Pérez, Estibaliz3, Gámez-Guadix, Manuel1
Publikováno v:
Psicothema. 2024, Vol. 36 Issue 3, p247-256. 10p.
Autor:
Feenstra, Elizabeth1 (AUTHOR), Van Roest, Aalt2 (AUTHOR), Boes, Juul2 (AUTHOR), Spiritus, Tom2 (AUTHOR), Kenis, Sandra1 (AUTHOR), Duval, Els L. I. M.1,3 (AUTHOR), Vanden Bossche, Stephanie1 (AUTHOR), Vanden Driessche, Koen1 (AUTHOR), Jorens, Philippe G.1,3 (AUTHOR) philippe.jorens@uza.be, Takaya, Junji (AUTHOR)
Publikováno v:
Case Reports in Pediatrics. 6/12/2024, Vol. 2024, p1-11. 11p.
Autor:
Rodés‐Sánchez, M.1 cso@efsa.europa.eu, Pozzi, F.2, Sunyer‐Vidal, J.1, Puppo, F.1, Griepink, M.1, Santuccio, F.2, Stillitano, P.2, Folkvord, F.1, Lupianez‐Villanueva, F.1
Publikováno v:
EFSA Supporting Publications. Jun2024, Vol. 21 Issue 6, p1-209. 209p.
Autor:
Jeffrey S. Deitch, Guillermo M. Alexander, Elizabeth A. Blankenhorn, Catherine B. Kunst, Terry Heiman-Patterson, Roger B. Sher, Gregory A. Cox, Nicholas J. Maragakis
Publikováno v:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. 12(2)
Transgenic (Tg) mouse models of FALS containing mutant human SOD1 genes (G37R, G85R, D90A, or G93A missense mutations or truncated SOD1) exhibit progressive neurodegeneration of the motor system that bears a striking resemblance to ALS, both clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdf47527876b83c4e8ba771684acff01
https://pubmed.ncbi.nlm.nih.gov/21241159
https://pubmed.ncbi.nlm.nih.gov/21241159