Sequence of the cDNA and 5′-Flanking Region for Human Acid α-Glucosidase, Detection of an Intron in the 5′ Untranslated Leader Sequence, Definition of 18-bp Polymorphisms, and Differences with Previous cDNA and Amino Acid Sequences

No abstract is available for this paper.

• Publication year

  1990

• Venue

  DNA and Cell Biology

• Publication date

  1990-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1089/dna.1990.9.85PMID 2111708
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins.

  1989cited by this paper
• Homology of lysosomal enzymes and related proteins: Prediction of posttranslational modification sites including phosphorylation of mannose and potential epitopic and substrate binding sites in the α‐ and β‐subunits of hexosaminidases, α‐glucosidase, and rabbit and human isomaltase

  1988cited by this paper
• Primary structure and processing of lysosomal alpha‐glucosidase; homology with the intestinal sucrase‐isomaltase complex.

  1988influential reference
• Trans-acting protein factors and the regulation of eukaryotic transcription: lessons from studies on DNA tumor viruses.

  1988cited by this paper
• Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.

  1987cited by this paper
• Structural and functional characterization of the promoter region of the mouse c-Ki-ras gene

  1987cited by this paper
• Isolation of a cDNA probe for a human jejunal brush-border hydrolase, sucrase-isomaltase, and assignment of the gene locus to chromosome 3.

  1987cited by this paper
• Isolation of cDNA encoding transcription factor Sp1 and functional analysis of the DNA binding domain.

  1987cited by this paper
• Purification and biochemical characterization of the promoter-specific transcription factor, Sp1.

  1986cited by this paper
• Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.

  1986influential reference
• Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes.

  1986cited by this paper
• The sucrase-isomaltase complex: primary structure, membrane-orientation, and evolution of a stalked, intrinsic brush border protein.

  1986cited by this paper
• Trafficking of lysosomal enzymes in normal and disease states.

  1986cited by this paper
• Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.

  1985cited by this paper
• Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant.

  1984cited by this paper
• Further studies of the structure of human placental acid alpha-glucosidase.

  1984cited by this paper
• Cloning a cDNA for the lysosomal alpha-glucosidase.

  1984cited by this paper
• Cloning a cDNA for the lysosomal α-glucosidase

  1984cited by this paper
• Further studies of the structure of human placental acid α-glucosidase

  1984cited by this paper
• The nucleotide sequence of the chick cytoplasmic β-actin gene

  1983cited by this paper
• The nucleotide sequence of the chick cytoplasmic beta-actin gene.

  1983cited by this paper
• A simple and very efficient method for generating cDNA libraries.

  1983cited by this paper
• Extension of human acid α‐glucosidase polymorphism by isoelectric focusing in polyacrylamide gel

  1982cited by this paper
• Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues.

  1980cited by this paper
• Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

  1980cited by this paper
• Determination of RNA sequences by primer directed synthesis and sequencing of their cDNA transcripts.

  1980cited by this paper
• Chapter 22: A model of evolutionary change in proteins

  1978cited by this paper
• Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.

  1978cited by this paper
• DNA sequencing with chain-terminating inhibitors.

  1977cited by this paper
• Acid alpha-glucosidase: a new polymorphism in man demonstrable by 'affinity' electrophoresis.

  1975cited by this paper
• Acid α‐glucosidase: A new polymorphism in man demonstrable by ‘affinity’ electrophoresis

  1975cited by this paper
• The spectrum and diagnosis of acid maltase deficiency

  1973cited by this paper
• Glycogen storage diseases

  1969cited by this paper
• [Muscular glycogenosis caused by alpha-1,4-glucosidase deficiency simulating progressive muscular dystrophy. (Clinical and enzyme study. Optic and electron microscopy)].

  1965cited by this paper
• The subcellular distribution of enzymes in type II glycogenosis and the occurrence of an oligo-alpha-1,4-glucan glucohydrolase in human tissues.

  1965cited by this paper
• α-Glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease)

  1963cited by this paper
• alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

  1963cited by this paper

• Correction of Disease Phenotype in Pompe Disease Knockout Mice Following Cationic Lipid-GL-67-Mediated Gene Therapy.

  2025cites this paper
• Energy metabolism pathways control the fate of Sinonovacula constricta and induction of immune response under Vibrio parahaemolyticus challenge

  2023cites this paper
• Sleep in pediatric neuromuscular disorders.

  2023cites this paper
• Crotamine as a vehicle for non-viral gene delivery for Pompe disease

  2021cites this paper
• A 12-Year-Old Girl with a 2-Year History of Progressive Limb Weakness and Difficulties with Exercise

  2019cites this paper
• A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease

  2018cites this paper
• Pompe Disease: From Basic Science to Therapy

  2018cites this paper
• XC A E 2 . Kornfield , “ Purification and Multimeric Structure of Bovine

  2017cites this paper
• The molecular basis for Pompe disease revealed by the structure of human acid α-glucosidase

  2017cites this paper
• Clinical Analysis of Algerian Patients with Pompe Disease

  2017cites this paper
• Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease

  2017cites this paper
• Late onset form of Pompe disease.

  2015cites this paper
• Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

  2015cites this paper
• Novel GAA mutations in patients with Pompe disease.

  2015cites this paper
• Infantile Pompe Disease Presenting with Severe Hypertrophic Cardiomyopathy: A Case Report

  2015cites this paper
• Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.

  2014cites this paper
• Children with Pompe disease: clinical characteristics, peculiar features and effects of enzyme replacement therapy

  2014cites this paper
• Pompe disease: from pathophysiology to therapy and back again

  2014cites this paper
• A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease)

  2014cites this paper
• The genotype–phenotype correlation in Pompe disease

  2012cites this paper
• Immunodominant Liver-Specific Expression Suppresses Transgene-Directed Immune Responses in Murine Pompe Disease

  2012cites this paper
• Enfermedad de Pompe

  2012cites this paper
• Acid maltase deficiency--Pompe's disease.

  2011cites this paper
• Hepatitis B virus surface antigen interacts with acid alpha‐glucosidase and alters glycogen metabolism

  2010cites this paper
• Enzymatic and molecular strategies to diagnose Pompe disease.

  2010cites this paper
• Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high‐level vector‐mediated transgene expression

  2009cites this paper
• Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations

  2009cites this paper
• Glycoside hydrolase family 31 Escherichia coli α-xylosidase

  2008cites this paper
• Domain 5 of the cation-independent mannose 6-phosphate receptor preferentially binds phosphodiesters (mannose 6-phosphate N-acetylglucosamine ester).

  2007cites this paper
• Enzyme therapy for Pompe disease: from science to industrial enterprise

  2007cites this paper
• Glycogen storage disease types I and II: Treatment updates

  2007cites this paper
• Pompe Disease-Glycogenosis Type II: Acid Maltase Deficiency

  2007cites this paper
• Expression variation in lysosomal storage disorder genes

  2006cites this paper
• tations Affecting the Transport and

  2005cites this paper
• GSD Typ II und Typ IV: Biochemische und molekulargenetische Analyse bei Patienten mit Mangel an saurer α-Glukosidase bzw. mit Branchingenzymmangel

  2005cites this paper
• Glycogenosis type II/Pomple/lysosomal _-glucosidase deficiency

  2005cites this paper
• Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.

  2005cites this paper
• Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

  2004cites this paper
• Twenty‐two novel mutations in the lysosomal α‐glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II

  2004cites this paper
• Linkage of acid α-glucosidase (Gaa) and Thymidine kinase (Tk-1) to Esterase-3 (Es-3) on mouse Chromosome 11

  2004cites this paper
• Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human -Glucosidase From Milk

  2004cites this paper
• Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.

  2004cites this paper
• Molecular cloning and characterization of a gibberellin-inducible, putative α-glucosidase gene from barley

  2004cites this paper
• Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II

  2003cites this paper
• Enzyme therapy for Pompe disease: from science to industrial enterprise

  2002cites this paper
• Computer assisted cloning of human neutral α-glucosidase C (GANC): A new paralog in the glycosyl hydrolase gene family 31

  2002cites this paper
• Helios Gene Gun Particle Delivery for Therapy of Acid Maltase Deficiency

  2002cites this paper
• Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

  2002cites this paper
• A supernumerary marker chromosome with a neocentromere derived from 5p14-->pter.

  2001cites this paper
• Identification and characterization of a tissue-specific silencer element in the first intron of the human acid maltase gene

  2001cites this paper
• Recurrent mutations in the deafness geneGJB2 (connexin 26) in British Asian families

  2001cites this paper
• Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line.

  2000cites this paper
• Metabolic myopathies: a clinical approach; part II.

  2000cites this paper
• Frequent mutations in Japanese patients with acid maltase deficiency.

  2000cites this paper
• Murine Acid α-Glucosidase: Cell-Specific mRNA Differential Expression during Development and Maturation

  1999cites this paper
• Neonatal metabolic myopathies.

  1999cites this paper
• A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease Type II (GSDII)

  1999influential citation
• Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation.

  1999cites this paper
• Molecular genetic study of Pompe disease in Chinese patients in Taiwan

  1999cites this paper
• [Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)].

  1999cites this paper
• Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.

  1998cites this paper
• Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.

  1998cites this paper
• Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease.

  1998cites this paper
• The identification of five novel mutations in the lysosomal acid a‐(1,4) glucosidase gene from patients with glycogen storage disease type II

  1998cites this paper
• Complete correction of acid α-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle

  1998cites this paper
• Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.

  1998cites this paper
• Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.

  1998cites this paper
• Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

  1998cites this paper
• Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α‐glucosidase gene

  1998cites this paper
• The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.

  1998cites this paper
• Adenovirus-Mediated Transfer of Human Acid Maltase Gene Reduces Glycogen Accumulation in Skeletal Muscle of Japanese Quail with Acid Maltase Deficiency

  1998cites this paper
• Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: Evidence for a founder effect

  1998influential citation
• Purification and biochemical characterisation of human placental acid alpha-glucosidase.

  1997cites this paper
• Consequences of disrupting the gene that encodes alpha-glucosidase II in the N-linked oligosaccharide biosynthesis pathway of Dictyostelium discoideum.

  1997cites this paper
• Glycogenosis type II: A juvenile‐specific mutation with an unusual splicing pattern and a shared mutation in African Americans

  1997cites this paper
• Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.

  1997cites this paper
• High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease.

  1996cites this paper
• Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype

  1996cites this paper
• A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II).

  1996cites this paper
• Identification of an E689K substitution as the molecular basis of the human acid α‐glucosidase type 4 allozyme (GAA*4)

  1996cites this paper
• Metabolic myopathies.

  1996cites this paper
• Homozygous deletion of exon 18 leads to degradation of the lysosomal α‐glucosidase precursor and to the infantile form of glycogen storage disease type II

  1996cites this paper
• Glycogenosis type II (acid maltase deficiency)

  1995cites this paper
• Nucleotide sequence and expression of alpha-glucosidase-encoding gene (agdA) from Aspergillus oryzae.

  1995cites this paper
• Genetic defects in patients with glycogenosis type II (acid maltase deficiency)

  1995cites this paper
• Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

  1995cites this paper
• Neural regulation of acid maltase in an unusual adult onset deficiency.

  1994cites this paper
• A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

  1994cites this paper
• Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)

  1994cites this paper
• Hereditary metabolic cardiomyopathies.

  1994cites this paper
• The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

  1994cites this paper
• Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.

  1994cites this paper
• Two mutations affecting the transport and maturation of lysosomal α‐glucosidase in an adult case of glycogen storage disease type II

  1993cites this paper
• Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.

  1993cites this paper
• The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

  1993cites this paper
• Recombinant human acid alpha-glucosidase generated in bacteria: antigenic, but enzymatically inactive.

  1992cites this paper
• Sequence of the complete cDNA and the 5' structure of the human sucrase-isomaltase gene. Possible homology with a yeast glucoamylase.

  1992cites this paper
• Recombinant Human Acid α-Glucosidase Generated in Bacteria: Antigenic, but Enzymatically Inactive

  1992influential citation
• Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.

  1992cites this paper
• Identification of the promoter region and gene expression for human acid alpha glucosidase.

  1991cites this paper