Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Gundula U. LaBadie"'
Autor:
Premila S. Pullarkat, Gundula U. Labadie, George N. Morris, Sandra E. Zawitosky, Raju K. Pullarkat
Publikováno v:
American Journal of Medical Genetics. 42:575-579
Accumulation of oligosaccharyl diphosphodolichols (oligo-PP-Dol) in brains of patients with various forms of ceroid-lipofuscinoses (CL) is one of the most reproducible biochemical changes known so far. The objective of this study is to understand the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72a3b7c4bc756b369f7da2776ee19b59
https://doi.org/10.1002/ajmg.1320420430
https://doi.org/10.1002/ajmg.1320420430
Autor:
Raju K. Pullarkat, Gundula U. Labadie
Publikováno v:
American journal of medical genetics. 37(4)
Urine from patients with classical and atypical forms of juvenile ceroid-lipofuscinosis (CL) was analyzed for the presence of disease-specific peptides. Two distinct peptide patterns were recognized on lithium dodecyl sulfate polyacrylamide gel elect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70e73455aae7f769a447604f8b5c3a41
https://pubmed.ncbi.nlm.nih.gov/1701959
https://pubmed.ncbi.nlm.nih.gov/1701959
Publikováno v:
Pediatric Research. 11:862-866
alpha-L-Fucosidase (EC 3.2.1.51) activity was studied in cultured skin fibroblasts obtained from 23 members of a family in which two cases of fucosidosis type 2 had occurred and in the fibroblasts of a patient with fucosidosis type 1. Both the 4-meth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7bcc4ba9e2482c2d5112e60d0f59551
https://doi.org/10.1203/00006450-197707000-00017
https://doi.org/10.1203/00006450-197707000-00017
Autor:
Gloria Balaban, Gail Haller, Linda R. Messatzzia, David A. Hungerford, William J. Mellman, Gundula U. LaBadie
Publikováno v:
Proceedings of the National Academy of Sciences. 67:221-224
Recently developed pachytene maps of the two small acrocentric autosomes (numbers 21 and 22) of man have been applied to a case of Down's syndrome mosaic for normal and trisomic cells (46,XY/47,XY,21+). Trivalents in trisomic spermatocytes, and thus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ff18127cf4f7cb404e29f61da6c438b
https://doi.org/10.1073/pnas.67.1.221
https://doi.org/10.1073/pnas.67.1.221
Publikováno v:
Cytogenetic and Genome Research. 10:33-37
Provisional maps are given for the two smallest autosomes (chromosomes 21 and 22) at pachytene in the human male. The longer of the two consists of 10 chromomeres in a standard sequence of various sizes, and the shorter one of 6 such chromomeres, inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0eda87a4170fdb4e3f2af49a510c9fa
https://doi.org/10.1159/000130124
https://doi.org/10.1159/000130124
Publikováno v:
Pediatric research. 15(3)
Summary: Menkes fibroblasts contain a significantly greater amount of cysteine-rich 10,000 dalton copper-binding protein(s) (metallothionein) than normal cells. Mutant fibroblasts incorporated 30 to 40% more tritiated amino acids into 10,000 dalton p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bee5fbb743da36bc9f01567bc2a7bdc5
https://pubmed.ncbi.nlm.nih.gov/7220148
https://pubmed.ncbi.nlm.nih.gov/7220148
Autor:
Elizabeth A. Shipp, Gundula U Labadie, Kurt Hirschhorn, Robert E. Mrak, Alfred E. Slonim, Robin Presson, Rosalind A. Coleman, Owen B. Evans, Jennifer Najjar, Mary A. McElligot
Publikováno v:
Neurology. 33(1)
Progressive muscle weakness in acid maltase deficiency (AMD) is associated with intralysosomal accumulation of glycogen and altered myofibrillar morphology. A rapid fall in circulating branched chain amino acids after protein ingestion in a child wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b14e26e1582c3adc48afd2c7513de5e6
https://pubmed.ncbi.nlm.nih.gov/6401355
https://pubmed.ncbi.nlm.nih.gov/6401355
Publikováno v:
Journal of cellular physiology. 106(2)
Proteins of approximately 10,000 daltons (presumably metallothionein) and greater than 75,000 daltons bound 64Cu when this metal was added to fibroblast lysates. Treatment with either 2-mercaptoethanol or the disodium salt of ethylenediamine tetraace
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ee6275b8d9a8997c3fa356a2cf0d448
https://pubmed.ncbi.nlm.nih.gov/6783668
https://pubmed.ncbi.nlm.nih.gov/6783668
Autor:
Alice E. Miller, Gundula U. LaBadie, Gail Haller, Linda R. Messatzzia, Gloria Balaban, Francis T. Ashton, David A. Hungerford
During prophase stages of the first meiotic division in human males, an autosomal divalent in the C group (autosomes 6-12) characteristically has associated with it, at a specific locus, small, DNA-containing bodies (parameres). A pachytene chromomer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b79d6a1035714e5cd2a7e41bd394ee0b
https://europepmc.org/articles/PMC426892/
https://europepmc.org/articles/PMC426892/
Publikováno v:
Pediatric Research. 15:565-565
Previously, we demonstrated that the abnormal accumulation of Cu in Menkes disease (MD) fibroblasts (Fb) is associated with an increased amount of metallothionein (MT) (2-3 times normal) (Pediat. Res., in press). To define the basic defect in MD, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07260e240d743861e42a8f04a6876220
https://doi.org/10.1203/00006450-198104001-00759
https://doi.org/10.1203/00006450-198104001-00759