Zobrazeno 1 - 10
of 140
pro vyhledávání: '"B. Kunst"'
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:
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
Autor:
Claude T. Ashley, Catherine B. Kunst, Evan E. Eichler, David L. Nelson, Harold A. Leiner, James S. Sutcliffe, Stephen T. Warren
Publikováno v:
Nature Genetics. 4:244-251
Fragile X syndrome is associated with massive expansion of a CGG trinucleotide repeat within the FMR-1 gene and transcriptional silencing of the gene due to abnormal methylation. Partial cDNA sequence of the human FMR-1 has been reported. We report h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208a4d26c8ed7574257df103ef2ee31d
https://doi.org/10.1038/ng0793-244
https://doi.org/10.1038/ng0793-244
Publikováno v:
The Journal of biological chemistry. 283(42)
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting the motor neurons. The majority of familial forms of ALS are caused by mutations in the Cu,Zn-superoxide dismutase (SOD1). In mutant SOD1 spinal cord motor neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab6b7c24b83339785fa1cf026a231f0c
https://pubmed.ncbi.nlm.nih.gov/18715867
https://pubmed.ncbi.nlm.nih.gov/18715867
Autor:
K.Kosutić, D.Dolar, B. Kunst
It is shown that changes of a membrane water flux by pressure variation can be used to determine porosity of the membrane's skin. The membrane skin porosity is well characterized by two compound experimental parameters K' and α . K' contains the bas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::bdb2c936f58ed4f751297007a4408a7f
https://www.bib.irb.hr/224575
https://www.bib.irb.hr/224575
Autor:
B. Kunst, Krešimir Košutić
The alkaline hydrolysis of asymmetric cellulose acetate membranes was investigated. The changes of cellulose triacetate and cellulose diacetate membrane performances caused by hydrolysis of the membrane material were measured, and the data were analy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f453dde902cee2ee1b8f6d467f1be1c
https://www.bib.irb.hr/90013
https://www.bib.irb.hr/90013