Publications
224 results found
HERNANDEZ D, PANNETT AAJ, TYBULEWICZ V, et al., 1995, HIGHLY POLYMORPHIC SEQUENCE AT D21S1448 MAPPING CLOSE TO D21S55, WITHIN THE DOWN-SYNDROME CRITICAL REGION, HUMAN GENETICS, Vol: 95, Pages: 721-722, ISSN: 0340-6717
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- Citations: 1
TARAKHOVSKY A, TURNER M, SCHAAL S, et al., 1995, DEFECTIVE ANTIGEN RECEPTOR-MEDIATED PROLIFERATION OF B-CELLS AND T-CELLS IN THE ABSENCE OF VAV, NATURE, Vol: 374, Pages: 467-470, ISSN: 0028-0836
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- Citations: 398
ODONNELL DR, GEORGIOU A, MEE PJ, et al., 1995, NORMAL PATTERNS OF LUNG-DISEASE AND VIRUS CLEARANCE IN RESPIRATORY SYNCYTIAL VIRUS-INFECTED MICE DEFICIENT OF IL-3, JOURNAL OF CELLULAR BIOCHEMISTRY, Pages: 284-284, ISSN: 0730-2312
Karaplis AC, Luz A, Glowacki J, et al., 1994, Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene., Genes Dev, Vol: 8, Pages: 277-289, ISSN: 0890-9369
The parathyroid hormone-related peptide (PTHrP) gene was disrupted in murine embryonic stem cells by homologous recombination, and the null allele was introduced into the mouse germ line. Mice homozygous for the PTHrP null mutation died postnatally, probably from asphyxia, and exhibited widespread abnormalities of endochondral bone development. Histological examination revealed a diminution of chondrocyte proliferation, associated with premature maturation of chondrocytes and accelerated bone formation. Analysis of earlier developmental stages revealed that disturbance in cartilage growth preceded abnormal endochondral bone formation. There were no morphological abnormalities apparent in other tissues. These results provide direct evidence implicating PTHrP in normal skeletal development and serve to emphasize its potential involvement in human osteochondrodysplasias.
Tybulewicz VL, Tremblay ML, LaMarca ME, et al., 1992, Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene., Nature, Vol: 357, Pages: 407-410, ISSN: 0028-0836
Gaucher's disease is the most prevalent lysosomal storage disorder in humans and results from an autosomally inherited deficiency of the enzyme glucocerebrosidase (beta-D-glucosyl-N-acylsphingosine glucohydrolase), which is responsible for degrading the sphingolipid glucocerebroside. An animal model for Gaucher's disease would be important for investigating its phenotypic diversity and pathogenesis and for evaluating therapeutic approaches. A naturally occurring canine model has been reported but not propagated. Attempts to mimic the disease in animals by inhibiting glucocerebrosidase have been inadequate. Here we generate an animal model for Gaucher's disease by creating a null allele in embryonic stem cells through gene targeting and using these genetically modified cells to establish a mouse strain carrying the mutation. Mice homozygous for this mutation have less than 4% of normal glucocerebrosidase activity, die within twenty-four hours of birth and store glucocerebroside in lysosomes of cells of the reticuloendothelial system.
TYBULEWICZ VLJ, CRAWFORD CE, JACKSON PK, et al., 1991, NEONATAL LETHALITY AND LYMPHOPENIA IN MICE WITH A HOMOZYGOUS DISRUPTION OF THE C-ABL PROTOONCOGENE, CELL, Vol: 65, Pages: 1153-1163, ISSN: 0092-8674
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- Citations: 1196
GAY NJ, TYBULEWICZ VLJ, WALKER JE, 1986, INSERTION OF TRANSPOSON TN7 INTO THE ESCHERICHIA-COLI-GLMS TRANSCRIPTIONAL TERMINATOR, BIOCHEMICAL JOURNAL, Vol: 234, Pages: 111-117, ISSN: 0264-6021
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- Citations: 45
Tybulewicz VLJ, Falk G, Walker JE, 1986, [18] DNA sequence and transcription of genes for ATP synthase subunits from photosynthetic bacteria, Methods in Enzymology, Publisher: Elsevier, Pages: 230-249
Walker JE, Fearnley IM, Gay NJ, et al., 1985, Primary structure and subunit stoichiometry of F1-ATPase from bovine mitochondria., J Mol Biol, Vol: 184, Pages: 677-701, ISSN: 0022-2836
The enzyme complex F1-ATPase has been isolated from bovine heart mitochondria by gel filtration of the enzyme released by chloroform from sub-mitochondrial particles. The five individual subunits alpha, beta, gamma, delta and epsilon that comprise the complex have been purified from it, and their amino acid sequences determined almost entirely by direct protein sequence analysis. A single overlap in the gamma-subunit was obtained by DNA sequence analysis of a complementary DNA clone isolated from a bovine cDNA library using a mixture of 32 oligonucleotides as the hybridization probe. The alpha, beta, gamma, delta and epsilon subunits contain 509, 480, 272, 146 and 50 amino acids, respectively. Two half cystine residues are present in the alpha-subunit and one in each of the gamma- and epsilon-chains; they are absent from the beta- and delta-subunits. The stoichiometry of subunits in the complex is estimated to be alpha 3 beta 3 gamma 1 delta 1 epsilon 1 and the molecular weight of the complex is 371,135. Mild trypsinolysis of the F1-ATPase complex, which has little effect on the hydrolytic activity of the enzyme, releases peptides from the N-terminal regions of the alpha- and beta-chains only; the C-terminal regions are unaffected. Sequence analysis of the released peptides demonstrates that the N terminals of the alpha- and beta-chains are ragged. In 65% of alpha-chains, the terminus is pyrrolidone carboxylic acid; in the remainder this residue is absent and the chains commence at residue 2, i.e. lysine. In the beta-subunit a minority of chains (16%) have N-terminal glutamine, or its deamidation product, glutamic acid (6%), or the cyclized derivative, pyrrolidone carboxylic acid (5%). A further 28% commence at residue 2, alanine, and 45% at residue 3, serine. The delta-chains also are heterogeneous; in 50% of chains the N-terminal alanine residue is absent. The sequences of the alpha- and beta-chains show that they are weakly homologous, as they are in bacterial F1
Tybulewicz VLJ, Falk G, Walker JE, 1984, Rhodopseudomonas blastica atp operon, Journal of Molecular Biology, Vol: 179, Pages: 185-214, ISSN: 0022-2836
WALKER JE, FALK G, GAY NJ, et al., 1984, GENES FOR BACTERIAL AND MITOCHONDRIAL ATP SYNTHASE, BIOCHEMICAL SOCIETY TRANSACTIONS, Vol: 12, Pages: 234-235, ISSN: 0300-5127
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- Citations: 1
TYBULEWICZ VLJ, FALK G, WALKER JE, 1984, RHODOPSEUDOMONAS-BLASTICA-ATP OPERON - NUCLEOTIDE-SEQUENCE AND TRANSCRIPTION, JOURNAL OF MOLECULAR BIOLOGY, Vol: 179, Pages: 185-214, ISSN: 0022-2836
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- Citations: 115
WALKER JE, GAY NJ, RUNSWICK MJ, et al., 1983, STRUCTURE AND ASSEMBLY OF F1Fo ATPASE COMPLEX, Structure and Function of Membrane Proteins, Publisher: Elsevier, Pages: 167-176
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