Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.

The growth and development of human genetics as a clinical discipline. Am J Hum Genet (1975) 2.23

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts. J Clin Invest (1978) 1.35

Homocystinuria due to cystathionine synthase deficiency. Studies of nitrogen balance and sulfur excretion. J Clin Invest (1975) 1.15

On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts. Proc Natl Acad Sci U S A (1974) 1.09

Cystathionine synthase activity in human lymphocytes: induction by phytohemagglutinin. J Clin Invest (1972) 1.04

Phenotypic diversity of human diseases resulting from allelic series. Am J Hum Genet (1973) 1.03

Homocystinuria. Reduced folate levels during pyridoxine treatment. Arch Dis Child (1973) 0.91

Vitamin B6 dependency in homocystinuria. Br Med J (1971) 0.83

Recent advances in the mechanism of pyridoxine-responsive disorders. J Inherit Metab Dis (1985) 0.81

Hybrid sequencing approach applied to human fecal metagenomic clone libraries revealed clones with potential biotechnological applications. PLoS One (2012) 0.77

Inborn errors of metabolism. Vitamin-responsive genetic disease. J Clin Pathol Suppl (R Coll Pathol) (1974) 0.75

Homocystinuria and the passing of the one gene-one enzyme concept of disease. Trans Am Ophthalmol Soc (1978) 0.75

HOMOCYSTINURIA: AN ENZYMATIC DEFECT. Science (1964) 3.63

Quantitative determination of keto-acids by paper partition chromatography. Biochim Biophys Acta (1954) 3.37

Keto-acid content of human blood and urine. Nature (1949) 3.34

Transsulfuration in mammals. Microassays and tissue distributions of three enzymes of the pathway. J Biol Chem (1965) 3.21

HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY. Arch Dis Child (1963) 3.12

Enzymatic preparation of alpha-keto acids. J Biol Chem (1952) 2.52

Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria. Science (1968) 1.89

The successful treatment of homocystinuria with pyridoxine. J Pediatr (1969) 1.41

HOMOCYSTINURIA, AN ERROR IN THE METABOLISM OF METHIONINE. Pediatrics (1964) 1.26

Sulfite oxidase deficiency in man: demonstration of the enzymatic defect. Science (1967) 1.23

Homocystinuria due to cystathionine synthase deficiency. Ann Intern Med (1965) 1.20

THE COFACTOR-MEDIATED REGULATION OF APOENZYME LEVELS IN ANIMAL TISSUES. I. THE PYRIDOXINE-INDUCED RISE OF RAT LIVER TYROSINE TRANSAMINASE LEVEL IN VIVO. J Biol Chem (1963) 1.19

Pyridoxine-dependency in homocystinuria. Lancet (1968) 1.16

Studies on the role of vitamin B6 derivatives in regulating tyrosine alpha-ketoglutarate transaminase activity in vitro and in vivo. J Biol Chem (1967) 1.16

Homocystinuria. Br Med Bull (1969) 1.16

Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine. J Clin Invest (1965) 1.14

Homocystinuria as affected by pyridoxine, folic acid, and vitamin B12. Proc Soc Exp Biol Med (1968) 1.14

Treatment of homocystinuria with pyridoxine. A preliminary study. Arch Dis Child (1969) 1.03

Separation of cystine, penicillamine disulfide and cysteine-penicillamine mixed disulfide by automatic amino acid analysis. Anal Biochem (1966) 1.03

Homocystinuria of vitamin B6 dependent type. Tohoku J Exp Med (1968) 1.00

[Purification and study of some properties of homocysteine desulfhydrase from rat liver. Identification of cystathionase]. Bull Soc Chim Biol (Paris) (1969) 0.81

Biochemical and therapeutic studies in two cases of homocystinuria. Clin Sci (1968) 0.81

A hypothesis on the homocystinuric's response to pyridoxine. Metabolism (1968) 0.80

A receptor-mediated pathway for cholesterol homeostasis. Science (1986) 19.28

Regulation of the mevalonate pathway. Nature (1990) 18.25

Coated pits, coated vesicles, and receptor-mediated endocytosis. Nature (1979) 17.18

The low-density lipoprotein pathway and its relation to atherosclerosis. Annu Rev Biochem (1977) 13.34

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell (1984) 12.54

Receptor-mediated endocytosis: concepts emerging from the LDL receptor system. Annu Rev Cell Biol (1985) 11.53

Binding site on macrophages that mediates uptake and degradation of acetylated low density lipoprotein, producing massive cholesterol deposition. Proc Natl Acad Sci U S A (1979) 11.19

Receptor-mediated endocytosis of low-density lipoprotein in cultured cells. Methods Enzymol (1983) 10.95

Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery. J Clin Invest (1993) 9.56

ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs. Mol Cell (2000) 9.13

Regulation of mouse sterol regulatory element-binding protein-1c gene (SREBP-1c) by oxysterol receptors, LXRalpha and LXRbeta. Genes Dev (2000) 9.09

Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem (1974) 9.02

Overproduction of cholesterol and fatty acids causes massive liver enlargement in transgenic mice expressing truncated SREBP-1a. J Clin Invest (1996) 7.93

Role of the coated endocytic vesicle in the uptake of receptor-bound low density lipoprotein in human fibroblasts. Cell (1977) 7.74

Lipoprotein metabolism in the macrophage: implications for cholesterol deposition in atherosclerosis. Annu Rev Biochem (1983) 7.70

HMG CoA reductase: a negatively regulated gene with unusual promoter and 5' untranslated regions. Cell (1984) 7.66

SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis. Cell (1994) 7.10

SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene. Cell (1993) 6.95

Multivalent feedback regulation of HMG CoA reductase, a control mechanism coordinating isoprenoid synthesis and cell growth. J Lipid Res (1980) 6.50

Degradation of cationized low density lipoprotein and regulation of cholesterol metabolism in homozygous familial hypercholesterolemia fibroblasts. Proc Natl Acad Sci U S A (1976) 6.38

Differential expression of exons 1a and 1c in mRNAs for sterol regulatory element binding protein-1 in human and mouse organs and cultured cells. J Clin Invest (1997) 6.18

Isoform 1c of sterol regulatory element binding protein is less active than isoform 1a in livers of transgenic mice and in cultured cells. J Clin Invest (1997) 6.16

Recycling receptors: the round-trip itinerary of migrant membrane proteins. Cell (1983) 5.99

Decreased IRS-2 and increased SREBP-1c lead to mixed insulin resistance and sensitivity in livers of lipodystrophic and ob/ob mice. Mol Cell (2000) 5.92

NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor. J Biol Chem (1990) 5.91

Insulin selectively increases SREBP-1c mRNA in the livers of rats with streptozotocin-induced diabetes. Proc Natl Acad Sci U S A (1999) 5.81

Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med (1967) 5.63

Monensin interrupts the recycling of low density lipoprotein receptors in human fibroblasts. Cell (1981) 5.59

Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy. Nature (1999) 5.51

The LDL receptor gene: a mosaic of exons shared with different proteins. Science (1985) 5.49

Release of low density lipoprotein from its cell surface receptor by sulfated glycosaminoglycans. Cell (1976) 5.33

Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity. Proc Natl Acad Sci U S A (1974) 5.05

Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem (1974) 4.98

Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. Genes Dev (1998) 4.86

Activation of cholesterol synthesis in preference to fatty acid synthesis in liver and adipose tissue of transgenic mice overproducing sterol regulatory element-binding protein-2. J Clin Invest (1998) 4.78

Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene. J Clin Invest (1997) 4.75

Receptor-mediated control of cholesterol metabolism. Science (1976) 4.67

SREBP-2, a second basic-helix-loop-helix-leucine zipper protein that stimulates transcription by binding to a sterol regulatory element. Proc Natl Acad Sci U S A (1993) 4.61

The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet (1985) 4.60

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science (1985) 4.51

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat (1992) 4.48

Independent regulation of sterol regulatory element-binding proteins 1 and 2 in hamster liver. Proc Natl Acad Sci U S A (1995) 4.40

Receptor-mediated endocytosis: insights from the lipoprotein receptor system. Proc Natl Acad Sci U S A (1979) 4.22

Domain map of the LDL receptor: sequence homology with the epidermal growth factor precursor. Cell (1984) 4.21

Localization of low density lipoprotein receptors on plasma membrane of normal human fibroblasts and their absence in cells from a familial hypercholesterolemia homozygote. Proc Natl Acad Sci U S A (1976) 4.17

Sterol-regulated release of SREBP-2 from cell membranes requires two sequential cleavages, one within a transmembrane segment. Cell (1996) 4.12

The clinical investigator: bewitched, bothered, and bewildered--but still beloved. J Clin Invest (1997) 4.09

Inhibition of purified p21ras farnesyl:protein transferase by Cys-AAX tetrapeptides. Cell (1990) 3.99

Induction of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in human fibroblasts incubated with compactin (ML-236B), a competitive inhibitor of the reductase. J Biol Chem (1978) 3.97

Massive xanthomatosis and atherosclerosis in cholesterol-fed low density lipoprotein receptor-negative mice. J Clin Invest (1994) 3.97

A mutation that impairs the ability of lipoprotein receptors to localise in coated pits on the cell surface of human fibroblasts. Nature (1978) 3.96

Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol. Proc Natl Acad Sci U S A (1973) 3.94

Depletion of intracellular potassium arrests coated pit formation and receptor-mediated endocytosis in fibroblasts. Cell (1983) 3.85

The low density lipoprotein receptor. Identification of amino acids in cytoplasmic domain required for rapid endocytosis. J Biol Chem (1987) 3.84

Sterol resistance in CHO cells traced to point mutation in SREBP cleavage-activating protein. Cell (1996) 3.78

Mechanism of inhibition of spinach beta-cystathionase by rhizobitoxine. Biochim Biophys Acta (1971) 3.56

Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia. J Biol Chem (1981) 3.54

SREBP cleavage-activating protein (SCAP) is required for increased lipid synthesis in liver induced by cholesterol deprivation and insulin elevation. Genes Dev (2001) 3.52

The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. Cell (1986) 3.44

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu Rev Genet (1990) 3.40

Suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and inhibition of growth of human fibroblasts by 7-ketocholesterol. J Biol Chem (1974) 3.40

Regulation of plasma cholesterol by lipoprotein receptors. Science (1981) 3.36

Esterification of low density lipoprotein cholesterol in human fibroblasts and its absence in homozygous familial hypercholesterolemia. Proc Natl Acad Sci U S A (1974) 3.33

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia. Cell (1987) 3.31

Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs. Mol Cell (1997) 3.29

Low density lipoprotein receptor-related protein mediates uptake of cholesteryl esters derived from apoprotein E-enriched lipoproteins. Proc Natl Acad Sci U S A (1989) 3.26

Transport-dependent proteolysis of SREBP: relocation of site-1 protease from Golgi to ER obviates the need for SREBP transport to Golgi. Cell (1999) 3.23

Sepsis with a new species of Corynebacterium. Ann Intern Med (1976) 3.23

Unsaturated fatty acids down-regulate srebp isoforms 1a and 1c by two mechanisms in HEK-293 cells. J Biol Chem (2000) 3.22

Purification of the low density lipoprotein receptor, an acidic glycoprotein of 164,000 molecular weight. J Biol Chem (1982) 3.22

The cholesteryl ester cycle in macrophage foam cells. Continual hydrolysis and re-esterification of cytoplasmic cholesteryl esters. J Biol Chem (1980) 3.21

Transsulfuration in mammals. Microassays and tissue distributions of three enzymes of the pathway. J Biol Chem (1965) 3.21

Regulation of SREBP processing and membrane lipid production by phospholipids in Drosophila. Science (2002) 3.19

Role of the low density lipoprotein receptor in regulating the content of free and esterified cholesterol in human fibroblasts. J Clin Invest (1975) 3.18

Immunocytochemical visualization of coated pits and vesicles in human fibroblasts: relation to low density lipoprotein receptor distribution. Cell (1978) 3.17

39-kDa protein modulates binding of ligands to low density lipoprotein receptor-related protein/alpha 2-macroglobulin receptor. J Biol Chem (1991) 3.17

Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor. Proc Natl Acad Sci U S A (1975) 3.16

Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in human fibroblasts by lipoproteins. Proc Natl Acad Sci U S A (1973) 3.14

Decreased lipid synthesis in livers of mice with disrupted Site-1 protease gene. Proc Natl Acad Sci U S A (2001) 3.13

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. Cell (1985) 3.13

The scavenger cell pathway for lipoprotein degradation: specificity of the binding site that mediates the uptake of negatively-charged LDL by macrophages. J Supramol Struct (1980) 3.10

Visualization of acidic organelles in intact cells by electron microscopy. Proc Natl Acad Sci U S A (1984) 3.09

Assignment of the membrane attachment, DNA binding, and transcriptional activation domains of sterol regulatory element-binding protein-1 (SREBP-1). J Biol Chem (1994) 3.09

Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man. Science (1974) 3.05

Biosynthesis of N- and O-linked oligosaccharides of the low density lipoprotein receptor. J Biol Chem (1983) 3.05

The estradiol-stimulated lipoprotein receptor of rat liver. A binding site that membrane mediates the uptake of rat lipoproteins containing apoproteins B and E. J Biol Chem (1980) 3.05

Inhibition of proteolytic degradation of low density lipoprotein in human fibroblasts by chloroquine, concanavalin A, and Triton WR 1339. J Biol Chem (1975) 3.05

Nuclear protein that binds sterol regulatory element of low density lipoprotein receptor promoter. I. Identification of the protein and delineation of its target nucleotide sequence. J Biol Chem (1993) 3.04

Diet-induced hypercholesterolemia in mice: prevention by overexpression of LDL receptors. Science (1990) 3.01

Reversible accumulation of cholesteryl esters in macrophages incubated with acetylated lipoproteins. J Cell Biol (1979) 2.98

Regulated step in cholesterol feedback localized to budding of SCAP from ER membranes. Cell (2000) 2.98

Expression of sterol regulatory element-binding protein 1c (SREBP-1c) mRNA in rat hepatoma cells requires endogenous LXR ligands. Proc Natl Acad Sci U S A (2001) 2.97

Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13. Genomics (1995) 2.94

Molecular identification of the sterol-regulated luminal protease that cleaves SREBPs and controls lipid composition of animal cells. Mol Cell (1998) 2.90

Regulation of the activity of the low density lipoprotein receptor in human fibroblasts. Cell (1975) 2.89

Surface distribution and recycling of the low density lipoprotein receptor as visualized with antireceptor antibodies. J Cell Biol (1982) 2.84

Regulatory role for hepatic low density lipoprotein receptors in vivo in the dog. Proc Natl Acad Sci U S A (1981) 2.82

Saturation and suppression of hepatic lipoprotein receptors: a mechanism for the hypercholesterolemia of cholesterol-fed rabbits. Proc Natl Acad Sci U S A (1981) 2.82

Lemna paucicostata Hegelm. 6746: DEVELOPMENT OF STANDARDIZED GROWTH CONDITIONS SUITABLE FOR BIOCHEMICAL EXPERIMENTATION. Plant Physiol (1980) 2.76