D. Bishop

发表

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

R. Desnick, A. Oshima, Y. Suzuki, 1990, American journal of human genetics.

Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium.

H. Bonkovsky, R. Desnick, H. Naik, 2014, The American journal of medicine.

X-linked Sideroblastic Anemia Due to Carboxyl-terminal ALAS2 Mutations That Cause Loss of Binding to the β-Subunit of Succinyl-CoA Synthetase (SUCLA2)*

A. Hoffbrand, M. Fraser, D. Bishop, 2012, The Journal of Biological Chemistry.

Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone.

R. Desnick, D. Bishop, J. Wetmur, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Neuroaxonal Dystrophy Due to Lysosomal α-N-Acetylgalactosaminidase Deficiency

Anne M. Wang, R. Desnick, D. Schindler, 1989 .

Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes.

D. Bishop, 1990, Nucleic acids research.

AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function.

M. Fowkes, R. Desnick, Seng H. Cheng, 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms.

R. Desnick, D. Bishop, 1981, The Journal of biological chemistry.

Light- and electron-microscopic histochemistry of Fabry's disease.

R. Desnick, T. Faraggiana, E. Schuchman, 1981, The American journal of pathology.

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

C. Eng, R. Desnick, R. Kornreich, 1989, The Journal of clinical investigation.

Design and validation of an open-source modular Microplate Photoirradiation System for high-throughput photobiology experiments

R. Desnick, K. Moore, I. Lemischka, 2018, PloS one.

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.

R. Desnick, R. Kornreich, D. Bishop, 1988, Proceedings of the National Academy of Sciences of the United States of America.

Purification and properties of uroporphyrinogen III synthase from human erythrocytes.

S. Tsai, R. Desnick, D. Bishop, 1987, The Journal of biological chemistry.

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

T. Cox, D. Bishop, P. Cotter, 1995, Journal of bioenergetics and biomembranes.

Human δ-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization

R. Desnick, D. Bishop, K. Astrin, 1987, Human Genetics.

Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations.

H. Willard, D. Bishop, J. Gorski, 1992, Genomics.

Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome.

A. Henderson, D. Bishop, K. Astrin, 1990, Genomics.

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.

M. Cazzola, V. Rosti, D. Bishop, 2000, Blood.

Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.

R. Desnick, D. Bishop, T. Fitzmaurice, 1997, Journal of inherited metabolic disease.

Nucleotide sequence of the human a-galactosidase A gene

R. Desnick, R. Kornreich, D. Bishop, 1989 .

Nucleotide sequence of the human alpha-galactosidase A gene.

R. Desnick, R. Kornreich, D. Bishop, 1989, Nucleic acids research.

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion

R. Desnick, Y. Ioannou, D. Bishop, 1992, The Journal of cell biology.

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

D. Bishop, S. Bekri, A. May, 2003, Blood.

Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.

K. J. Dean, R. Desnick, C. Sweeley, 1979, Proceedings of the National Academy of Sciences of the United States of America.

Synthesis and Processing of a-Galactosidase A in Human Fibroblasts

R. Desnick, K. Figura, A. Hasilik, 1987 .

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.

Jacob C. Ulirsch, R. Bejar, D. Steensma, 2015, The Journal of clinical investigation.

Structural organization of the human a-galactosidase A gene: Further evidence for the absence of a 3' untranslated region (Fabry disease/intron-exon Junctions/full-length cDNA/promoter/lysosomal hydrolase)

R. Desnick, R. Kornreich, D. Bishop, 2016 .

Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.

S. Tsai, R. Desnick, D. Bishop, 1988, Proceedings of the National Academy of Sciences of the United States of America.

Congenital Erythropoietic Porphyria: Characterization of Murine Models of the Severe Common (C73R/C73R) and Later-Onset Genotypes

R. Desnick, N. Mohandas, D. Bishop, 2011, Molecular medicine.

Molecular cloning of a cDNA for human δ-aminolevulinate dehydratase

R. Desnick, D. Bishop, J. Wetmur, 1986 .

An atypical variant of Fabry's disease with manifestations confined to the myocardium.

C. Eng, R. Desnick, E. Erdmann, 1991, The New England journal of medicine.

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.

R. Desnick, R. Kornreich, D. Bishop, 1990, The Journal of biological chemistry.

δ‐Aminolevulinic Acid Dehydratase Isozymes and Lead Toxicity a

R. Desnick, D. Bishop, K. Astrin, 1987 .

delta-Aminolevulinic acid dehydratase isozymes and lead toxicity.

R. Desnick, D. Bishop, K. Astrin, 1987, Annals of the New York Academy of Sciences.

Evidence for erythroid and nonerythroid forms of δ-aminolevulinate synthetase.

W. Wood, D. Bishop, H. Kitchen, 1981 .

Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.

R. Desnick, K. von Figura, A. Hasilik, 1987, The Journal of biological chemistry.

Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria

R. Desnick, I. Nazarenko, D. Bishop, 2013, Molecular Medicine.

Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.

D. Bishop, P. Cotter, M. Baumann, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.

R. Desnick, R. Phelps, A. Johansson, 2006, American journal of human genetics.

Rapid determination of delta-aminolevulinate synthase activity by a specific fluorometric coupled enzyme assay.

R. Desnick, D. Bishop, K. Devey, 1981, Analytical biochemistry.

Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria.

S. Tsai, R. Desnick, D. Bishop, 1987, Analytical biochemistry.

Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.

M. Cazzola, D. Bishop, A. May, 1999, Blood.

Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency.

R. Desnick, A. M. Wang, D. Schindler, 1989, The New England journal of medicine.

Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene.

R. Desnick, A. M. Wang, D. Bishop, 1990, The Journal of biological chemistry.

Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.

T. Naidich, W. Kaufmann, R. Desnick, 2004, Archives of neurology.

Porphobilinogen synthase: a specific and sensitive coupled-enzyme assay.

R. Desnick, D. Bishop, 1986, Methods in enzymology.

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.

R. Desnick, D. Bishop, K. Astrin, 2001, The Journal of clinical investigation.

Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression.

R. Desnick, D. Bishop, C. Solis, 2000, Genomics.

Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.

V. Schramm, S. Mehta, J. Martignetti, 2012, American journal of human genetics.

Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.

C. Eng, R. Desnick, H. Sakuraba, 1992, Genomics.

Uroporphyrinogen III Synthase

R. Desnick, D. Bishop, K. Astrin, 2000, The Journal of Biological Chemistry.

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.

M. Cazzola, D. Bishop, G. Bergamaschi, 2002, Blood.

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

R. Desnick, D. Bishop, Vassili Tchaikovskii, 2019, Molecular medicine.

X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.

D. Bishop, D. Rucknagel, P. Cotter, 1994, Blood.

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

D. Bishop, A. May, P. Cotter, 1995, The Journal of clinical investigation.

Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.

J. Tolmie, R. Lill, D. Bishop, 2000, Blood.

Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation

J. Tolmie, R. Lill, D. Bishop, 2000 .

The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.

D. Bishop, A. May, D. Bishop, 1998, Haematologica.

Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.

L. Tyfield, D. Bishop, P. Cotter, 1994, Journal of medical genetics.

Frequency of reactivation and variability in expression of X-linked enzyme loci.

T. Mohandas, L. Shapiro, R. Desnick, 1984, American journal of human genetics.

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.

R. Desnick, P. Hantzopoulos, D. Bishop, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.

R. Desnick, X. Schneider-Yin, E. Minder, 2010, Blood.

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene

R. Desnick, D. Bishop, Luis Cunha, 2002, British journal of haematology.

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

U. Giger, R. Desnick, M. Haskins, 2010, Human molecular genetics.

Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation

U. Giger, R. Desnick, M. Haskins, 2010, Molecular medicine.

Acute intermittent porphyria: vector optimization for gene therapy

R. Desnick, Seng H. Cheng, D. Bishop, 2007, The journal of gene medicine.

Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

H. Bonkovsky, R. Desnick, I. Nazarenko, 2013, Molecular Medicine.

Human α-galactosidase A: High plasma activity expressed by the -30G→A allele

R. Desnick, D. Bishop, T. Fitzmaurice, 1997, Journal of Inherited Metabolic Disease.

Sequences of polycythemia-type Friend spleen focus-forming virus in clone-745-derived mouse erythroleukemia cells

D. Bishop, Min Lu, W. Scher, 2009, Archives of Virology.

Purification and characterization of human alpha-galactosidase isozymes: comparison of tissue and plasma forms and evaluation of purification methods.

K. J. Dean, R. Desnick, C. Sweeley, 1980, Birth defects original article series.

ϵ‐Sarcoglycan immunoreactivity and mRNA expression in mouse brain

P. Hof, S. Sealfon, J. González-Maeso, 2005 .

Human α-Galactosidase: Characterization and Eukaryotic Expression of the Full-Length cDNA and Structural Organization of the Gene

C. Eng, R. Desnick, R. Kornreich, 1988 .

Hepatic heme synthesis in a new model of experimental hemochromatosis: Studies in rats fed finely divided elemental iron

H. Bonkovsky, B. Bacon, G. Elder, 1987, Hepatology.

Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry disease.

K. J. Dean, R. Desnick, C. Sweeley, 1980, Birth defects original article series.

Pilot scale purification of α-galactosidase A from Cohn Fraction IV-1 of human plasma

C. Sweeley, M. Hawley, D. Anderson, 1978 .

Fabry disease: molecular diagnosis of hemizygotes and heterozygotes.

R. Desnick, D. Bishop, K. Astrin, 1987, Enzyme.

Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.

R. Desnick, P. Hantzopoulos, D. Bishop, 1985, Proceedings of the National Academy of Sciences of the United States of America.

An assay for δ-aminolevulinic acid synthetase based on a specific, semiautomatic determination of picomole quantitites of δ-[14C]aminolevulinate

W. Wood, D. Bishop, 1977 .

A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen.

R. Desnick, M. Balwani, Chunli Yu, 2011, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

synthase (ALAS2) gene causes X-linked sideroblastic anemia A promoter mutation in the erythroid-specific 5-aminolevulinate

D. Bishop, S. Bekri, A. May, 2013 .

Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses.

U. Giger, R. Desnick, Y. Ahuja, 2013, Veterinary journal.

Human uroporphyrinogen III synthase: NMR‐based mapping of the active site

M. Mezei, R. Desnick, Ming-Ming Zhou, 2008, Proteins.

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

R. Desnick, I. Nazarenko, M. Balwani, 2011, Journal of Inherited Metabolic Disease.

Fabry disease: an asymptomatic hemizygote with significant residual α-galactosidase A activity.

D. Bishop, 1981 .

Late-onset X-Linked Sideroblastic Anemia

D. Bishop, A. May, E. Fitzsimons, 2013 .

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

D. Bishop, S. Bekri, A. May, 2003 .

ar-Galactosidase A Gene Rearrangements Causing Fabry Disease

R. Desnick, D. Bishop, Ruth KornreichS, 2001 .

Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release

G. A. Bezerra, Gopalakrishnan Bulusu, R. Desnick, 2020, Nature Communications.

Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain.

P. Hof, S. Sealfon, J. González-Maeso, 2005, The Journal of comparative neurology.

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

U. Giger, R. Desnick, M. Haskins, 2010, Human molecular genetics.

Fabry disease: molecular genetics of the inherited nephropathy.

R. Desnick, D. Bishop, K. Astrin, 1989, Advances in nephrology from the Necker Hospital.

The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.

R. Desnick, R. Kornreich, D. Bishop, 1989, Transactions of the Association of American Physicians.

Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.

T. Naidich, W. Kaufmann, R. Desnick, 2004, Archives of neurology.

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

D. Bishop, S. Bekri, A. May, 2003, Blood.

Assignment of the human housekeeping delta-aminolevulinate synthase gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic cell hybrids.

H. Drabkin, D. Bishop, P. Cotter, 1995, Cytogenetics and cell genetics.