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Search results 1 to 100 out of 611 for Gaa

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0.046s
Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Danio rerio
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication
First Author: Raben N
Year: 2001
Journal: Hum Mol Genet
Title: Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.
Volume: 10
Issue: 19
Pages: 2039-47
GO Term
Publication
First Author: Al-Mahdawi S
Year: 2004
Journal: Genomics
Title: GAA repeat instability in Friedreich ataxia YAC transgenic mice.
Volume: 84
Issue: 2
Pages: 301-10
Publication
First Author: Khanna R
Year: 2014
Journal: PLoS One
Title: The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.
Volume: 9
Issue: 7
Pages: e102092
Publication
First Author: Martiniuk F
Year: 1991
Journal: Mamm Genome
Title: Linkage of acid alpha-glucosidase (Gaa) and thymidine kinase (Tk-1) to esterase-3 (Es-3) on mouse chromosome 11.
Volume: 1
Issue: 4
Pages: 267-9
Publication
First Author: Ashe KM
Year: 2010
Journal: Mol Genet Metab
Title: Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease.
Volume: 100
Issue: 4
Pages: 309-15
Publication
First Author: Falk DJ
Year: 2015
Journal: Hum Mol Genet
Title: Peripheral nerve and neuromuscular junction pathology in Pompe disease.
Volume: 24
Issue: 3
Pages: 625-36
Publication
First Author: Matalon R
Year: 2006
Journal: Biochem Biophys Res Commun
Title: Hyaluronidase increases the biodistribution of acid alpha-1,4 glucosidase in the muscle of Pompe disease mice: an approach to enhance the efficacy of enzyme replacement therapy.
Volume: 350
Issue: 3
Pages: 783-7
Publication
First Author: Nayak S
Year: 2012
Journal: Mol Genet Metab
Title: Mapping the T helper cell response to acid α-glucosidase in Pompe mice.
Volume: 106
Issue: 2
Pages: 189-95
Publication
First Author: Han SO
Year: 2016
Journal: Mol Genet Metab
Title: Salmeterol enhances the cardiac response to gene therapy in Pompe disease.
Volume: 118
Issue: 1
Pages: 35-40
Publication
First Author: Mori J
Year: 2008
Journal: J Histochem Cytochem
Title: Hematopoietic contribution to skeletal muscle regeneration in acid alpha-glucosidase knockout mice.
Volume: 56
Issue: 9
Pages: 811-7
Publication
First Author: Nayak S
Year: 2014
Journal: PLoS One
Title: Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent.
Volume: 9
Issue: 6
Pages: e98336
Publication  
First Author: Puzzo F
Year: 2017
Journal: Sci Transl Med
Title: Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.
Volume: 9
Issue: 418
Publication
First Author: Turner SMF
Year: 2016
Journal: Physiol Genomics
Title: Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology.
Volume: 48
Issue: 11
Pages: 785-794
Publication
First Author: Hawes ML
Year: 2007
Journal: Mol Genet Metab
Title: Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease.
Volume: 91
Issue: 4
Pages: 343-51
Publication
First Author: Keeler AM
Year: 2017
Journal: Am J Physiol Lung Cell Mol Physiol
Title: Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice.
Volume: 312
Issue: 6
Pages: L873-L881
Publication
First Author: Shemesh A
Year: 2014
Journal: Am J Physiol Regul Integr Comp Physiol
Title: Suppression of mTORC1 activation in acid-α-glucosidase-deficient cells and mice is ameliorated by leucine supplementation.
Volume: 307
Issue: 10
Pages: R1251-9
Publication
First Author: Raben N
Year: 2003
Journal: Transgenic Res
Title: Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout mice.
Volume: 12
Issue: 2
Pages: 171-8
Publication
First Author: Khanna R
Year: 2012
Journal: PLoS One
Title: The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease.
Volume: 7
Issue: 7
Pages: e40776
Publication
First Author: Bijvoet AG
Year: 1998
Journal: Hum Mol Genet
Title: Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
Volume: 7
Issue: 1
Pages: 53-62
Publication
First Author: Wang W
Year: 2006
Journal: Biochem Biophys Res Commun
Title: Relationship between glycogen accumulation and the laforin dual specificity phosphatase.
Volume: 350
Issue: 3
Pages: 588-92
Allele
Name: transgene insertion, Kenneth J Valenzano
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Publication categories: ProxyCollection
Publication
First Author: Zhu Y
Year: 2005
Journal: Biochem J
Title: Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice.
Volume: 389
Issue: Pt 3
Pages: 619-28
Publication
First Author: Ponce E
Year: 1999
Journal: Am J Pathol
Title: Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation.
Volume: 154
Issue: 4
Pages: 1089-96
Publication
First Author: Raben N
Year: 2001
Journal: Neurology
Title: Surprises of genetic engineering: a possible model of polyglucosan body disease.
Volume: 56
Issue: 12
Pages: 1739-45
Publication
First Author: Sun B
Year: 2007
Journal: Am J Hum Genet
Title: Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.
Volume: 81
Issue: 5
Pages: 1042-9
Publication
First Author: Rucker M
Year: 2004
Journal: Development
Title: Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease.
Volume: 131
Issue: 12
Pages: 3007-19
Publication
First Author: Koeberl DD
Year: 2011
Journal: Mol Genet Metab
Title: Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.
Volume: 103
Issue: 2
Pages: 107-12
Publication
First Author: Farah BL
Year: 2014
Journal: FASEB J
Title: Adjunctive β2-agonist treatment reduces glycogen independently of receptor-mediated acid α-glucosidase uptake in the limb muscles of mice with Pompe disease.
Volume: 28
Issue: 5
Pages: 2272-80
Publication
First Author: Douillard-Guilloux G
Year: 2010
Journal: Hum Mol Genet
Title: Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.
Volume: 19
Issue: 4
Pages: 684-96
Publication
First Author: Sun T
Year: 2016
Journal: J Biol Chem
Title: Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver.
Volume: 291
Issue: 32
Pages: 16479-84
Publication
First Author: Schliselfeld LH
Year: 2002
Journal: Biochem Biophys Res Commun
Title: Inverse relationship of skeletal muscle glycogen from wild-type and genetically modified mice to their phosphorylase a activity.
Volume: 290
Issue: 2
Pages: 874-7
Publication
First Author: Takikita S
Year: 2009
Journal: Mol Genet Metab
Title: Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches.
Volume: 96
Issue: 4
Pages: 208-17
Publication
First Author: Taylor KM
Year: 2013
Journal: PLoS One
Title: Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease.
Volume: 8
Issue: 2
Pages: e56181
Publication
First Author: Raben N
Year: 2002
Journal: Mol Ther
Title: Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme.
Volume: 6
Issue: 5
Pages: 601-8
Publication
First Author: Xu F
Year: 2004
Journal: Gene Ther
Title: Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.
Volume: 11
Issue: 21
Pages: 1590-8
Author
Publication
First Author: Ezzatizadeh V
Year: 2012
Journal: Neurobiol Dis
Title: The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model.
Volume: 46
Issue: 1
Pages: 165-71
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
First Author: Raben N
Year: 1998
Journal: J Biol Chem
Title: Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.
Volume: 273
Issue: 30
Pages: 19086-92
Publication
First Author: Raben N
Year: 2000
Journal: Neuromuscul Disord
Title: Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene.
Volume: 10
Issue: 4-5
Pages: 283-91
Publication
First Author: Geel TM
Year: 2007
Journal: Mol Genet Metab
Title: Pompe disease: current state of treatment modalities and animal models.
Volume: 92
Issue: 4
Pages: 299-307
Publication
First Author: Xu S
Year: 2010
Journal: J Appl Physiol (1985)
Title: Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease.
Volume: 108
Issue: 5
Pages: 1383-8
Publication
First Author: Gatto F
Year: 2017
Journal: Sci Rep
Title: AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease.
Volume: 7
Issue: 1
Pages: 15089
Publication
First Author: Taksir TV
Year: 2007
Journal: J Histochem Cytochem
Title: Optimized preservation of CNS morphology for the identification of glycogen in the Pompe mouse model.
Volume: 55
Issue: 10
Pages: 991-8
Publication
First Author: Nilsson MI
Year: 2012
Journal: Mol Genet Metab
Title: Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease.
Volume: 107
Issue: 3
Pages: 469-79
Publication
First Author: Joseph A
Year: 2008
Journal: Clin Exp Immunol
Title: Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model.
Volume: 152
Issue: 1
Pages: 138-46
Publication
First Author: Bijvoet AG
Year: 1999
Journal: J Pathol
Title: Pathological features of glycogen storage disease type II highlighted in the knockout mouse model.
Volume: 189
Issue: 3
Pages: 416-24
Publication
First Author: Kamphoven JH
Year: 2004
Journal: Neurobiol Dis
Title: Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse.
Volume: 16
Issue: 1
Pages: 14-20
Publication
First Author: van Til NP
Year: 2010
Journal: Blood
Title: Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype.
Volume: 115
Issue: 26
Pages: 5329-37
Publication
First Author: Hesselink RP
Year: 2002
Journal: Muscle Nerve
Title: Impaired performance of skeletal muscle in alpha-glucosidase knockout mice.
Volume: 25
Issue: 6
Pages: 873-83
Publication
First Author: Hesselink RP
Year: 2005
Journal: Muscle Nerve
Title: Age-related decline in muscle strength and power output in acid 1-4 alpha-glucosidase knockout mice.
Volume: 31
Issue: 3
Pages: 374-81
Publication
First Author: Kamphoven JH
Year: 2001
Journal: Physiol Genomics
Title: Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice.
Volume: 5
Issue: 4
Pages: 171-9
Publication
First Author: Martiniuk F
Year: 1986
Journal: Proc Natl Acad Sci U S A
Title: Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.
Volume: 83
Issue: 24
Pages: 9641-4
GXD Expression      
Probe: MGI:3846770
Assay Type: Northern blot
Annotation Date: 2009-06-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:3846771
Age: postnatal adult
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:3846770
Assay Type: Northern blot
Annotation Date: 2009-06-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:3846771
Age: postnatal adult
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:3846770
Assay Type: Northern blot
Annotation Date: 2009-06-07
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603925
Stage: TS25
Assay Id: MGI:3846976
Age: embryonic day 17.0
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:3846770
Assay Type: Northern blot
Annotation Date: 2009-06-07
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603923
Stage: TS23
Assay Id: MGI:3846976
Age: embryonic day 15.0
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:3846770
Assay Type: Northern blot
Annotation Date: 2009-06-07
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603918
Stage: TS18
Assay Id: MGI:3846976
Age: embryonic day 11.0
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:3846770
Assay Type: Northern blot
Annotation Date: 2009-06-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:3846771
Age: postnatal adult
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:3846770
Assay Type: Northern blot
Annotation Date: 2009-06-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:3846771
Age: postnatal adult
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:3846770
Assay Type: Northern blot
Annotation Date: 2009-06-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:3846771
Age: postnatal adult
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:3846770
Assay Type: Northern blot
Annotation Date: 2009-06-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:3846771
Age: postnatal adult
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:3846724
Assay Type: RT-PCR
Annotation Date: 2009-06-05
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3846884
Age: postnatal month 9
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:3846724
Assay Type: RT-PCR
Annotation Date: 2009-06-05
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3846884
Age: postnatal month 9
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:3846724
Assay Type: RT-PCR
Annotation Date: 2009-06-05
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3846884
Age: postnatal month 9
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:3846724
Assay Type: RT-PCR
Annotation Date: 2009-06-05
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3846871
Age: postnatal week 11
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:3846724
Assay Type: RT-PCR
Annotation Date: 2009-06-05
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3846871
Age: postnatal week 11
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:3846724
Assay Type: RT-PCR
Annotation Date: 2009-06-05
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3846871
Age: postnatal week 11
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:3846770
Assay Type: Northern blot
Annotation Date: 2009-06-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3846771
Age: postnatal adult
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:3846770
Assay Type: Northern blot
Annotation Date: 2009-06-04
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:3846771
Age: postnatal adult
Detected: true
Specimen Num: 8
GXD Expression      
Probe: MGI:5309506
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1876922
Stage: TS22
Assay Id: MGI:5422874
Age: embryonic day 14.5
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309506
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1753622
Stage: TS22
Assay Id: MGI:5422874
Age: embryonic day 14.5
Detected: false
Specimen Num: 1
GXD Expression
Probe: MGI:4886603
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1753628
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:4944798
Age: postnatal day 7
Image: g00218 P7
Note: Expression was region specific and scattered.
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:4886603
Assay Type: RNA in situ
Annotation Date: 2011-04-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1753623
Pattern: Widespread
Stage: TS23
Assay Id: MGI:4944798
Age: embryonic day 15.5
Image: g00218 E15.5
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:3846772
Assay Type: RNA in situ
Annotation Date: 2009-06-04
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1753624
Pattern: Not Specified
Stage: TS24
Assay Id: MGI:3846774
Age: embryonic day 16.0
Detected: true
Specimen Num: 17
GXD Expression  
Probe: MGI:3846772
Assay Type: RNA in situ
Annotation Date: 2009-06-04
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1753624
Pattern: Regionally restricted
Stage: TS24
Assay Id: MGI:3846774
Age: embryonic day 16.0
Note: Expression is in differentiating neurons.
Detected: true
Specimen Num: 9
GXD Expression      
Probe: MGI:5309506
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1610522
Stage: TS22
Assay Id: MGI:5422874
Age: embryonic day 14.5
Detected: false
Specimen Num: 1