Pages that link to "Q24561571"

The following pages link to Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease (Q24561571):

Displaying 30 items.

• aspartylglucosaminuria (Q4412533) (← links)
• Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts (Q24528082) (← links)
• Human leucocyte glycosylasparaginase is an alpha/beta-heterodimer of 19 kDa alpha-subunit and 17 and 18 kDa beta-subunit (Q24528875) (← links)
• Human leucocyte aspartylglucosaminidase. Evidence for two different subunits in a more complex native structure (Q24529577) (← links)
• Several cooperating binding sites mediate the interaction of a lysosomal enzyme with phosphotransferase (Q24532839) (← links)
• Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia (Q24564863) (← links)
• Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population (Q24678416) (← links)
• Initial insight into the function of the lysosomal 66.3 kDa protein from mouse by means of X-ray crystallography (Q27657154) (← links)
• Aspartylglycosaminuria: a review (Q28077247) (← links)
• Characterization of the Niemann-Pick C pathway in alveolar type II cells and lamellar bodies of the lung (Q28384948) (← links)
• Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria (Q28820747) (← links)
• A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays (Q30651566) (← links)
• Aspartylglucosaminuria in northern Norway: a molecular and genealogical study (Q33674126) (← links)
• Lysosomal aspartylglucosaminidase is processed to the active subunit complex in the endoplasmic reticulum (Q34041841) (← links)
• Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. (Q34145298) (← links)
• Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families (Q35196805) (← links)
• Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria (Q35432381) (← links)
• Functional analyses of active site residues of human lysosomal aspartylglucosaminidase: implications for catalytic mechanism and autocatalytic activation (Q35851826) (← links)
• Structural Characterization of the Loop at the Alpha-Subunit C-Terminus of the Mixed Lineage Leukemia Protein Activating Protease Taspase1. (Q35956482) (← links)
• Spectrum of mutations in aspartylglucosaminuria (Q37643452) (← links)
• Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production. (Q38874011) (← links)
• Genetics in an isolated population like Finland: a different basis for genomic medicine? (Q39449815) (← links)
• Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient (Q41565600) (← links)
• Comparison of liver glycosylasparaginases from six vertebrates (Q42793157) (← links)
• Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosaminuria (Q43776857) (← links)
• Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin (Q48067401) (← links)
• Expression and endocytosis of lysosomal aspartylglucosaminidase in mouse primary neurons. (Q48393574) (← links)
• Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number (Q60038139) (← links)
• Aspartylglucosaminuria among Palestinian Arabs (Q74031544) (← links)
• A Mutation Map for Human Glycoside Hydrolase Genes (Q89624331) (← links)