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Deacetylase Activity Associates with Topoisomerase II and Is Necessary for Etoposide-induced Apoptosis*
It is suggested that chromatin remodeling by an HDAC-containing complex facilitates both topo II-catalyzed DNA rearrangement and etoposide-induced DNA damage in vivo. Expand
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the α subunit of cone transducin (GNAT2)
The GNAT2 gene codes for cone α-transducin, the G protein that couples the cone pigments to cGMP-phosphodiesterase in phototransduction, and may prove to be implicated in other forms of retinal dystrophy with cone dysfunction. Expand
Distinctive patterns of histone H4 acetylation are associated with defined sequence elements within both heterochromatic and euchromatic regions of the human genome.
All acetylated histone H4 isoforms were depleted in non-coding, simple repeat DNA in heterochromatin, though the extent of depletion varied with the type of heterochromaatin and with the isoform. Expand
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
The clinical features and differential diagnoses of this group of syndromes, including autosomal recessive polycystic kidney disease (ARPKD), juvenile nephronophthisis (NPHP), Meckel-Gruber syndrome, Bardet-Biedl syndrome, and Jeune asphyxiating thoracic dystrophy are examined. Expand
Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism
A requirement for normal PTH processing is emphasised by the detection of FIH disease causing mutations, which include two missense amino acid substitutions within the signal region of the prepro-PTH gene, leading to inefficient cleavage by signal peptidases. Expand
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
A genome wide linkage search using autozygosity mapping in a cohort of four consanguineous families with ATD, three of which originate from Pakistan, and one from southern Italy shows evidence of marker homozygosity across a similar interval, but mutation analysis of two candidate genes did not show pathogenic mutations. Expand
A specific human lysophospholipase: cDNA cloning, tissue distribution and kinetic characterization.
The cDNA cloning of a human brain 25 kDa lysophospholipid-specific lysoPLA is reported, and it is concluded that hLysoPLA has a single substrate binding site and a surface recognition site. Expand
Histone deacetylases: complex transducers of nuclear signals.
Histone acetylation influences both gene transcription and chromatin assembly after DNA replication and the enzymes that regulate this property of chromatin are likely to play a key role inExpand
dSIR2 and dHDAC6: two novel, inhibitor-resistant deacetylases in Drosophila melanogaster.
New members of the histone deacetylase enzyme family in Drosophila melanogaster are identified and expressed and characterized as epitope-tagged recombinant proteins in Schneider SL2 cells. Expand
Synthesis, opioid receptor binding, and bioassay of naltrindole analogues substituted in the indolic benzene moiety.
The results of the present study suggest that morphinan derivatives related to 16 and 14 may provide useful leads for the development of potent nonpeptide ligands possessing delta agonist or mixed delta antagonist/mu agonist activities. Expand