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Search results 1 to 100 out of 697 for Gaa

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Hits by Pathway

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Type Details Score
Gene
2548 | GAA
Type: gene
Organism: human
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Gene
454940 | GAA
Type: gene
Organism: chimpanzee
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Gene
422082 | GAA
Type: gene
Organism: chicken
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Gene
100002366 | gaa
Type: gene
Organism: zebrafish
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Gene
712054 | GAA
Type: gene
Organism: macaque, rhesus
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Gene
100495955 | gaa
Type: gene
Organism: frog, western clawed
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Gene
280798 | GAA
Type: gene
Organism: cattle
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Gene
367562 | Gaa
Type: gene
Organism: rat
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Gene
483352 | GAA
Type: gene
Organism: dog, domestic
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Protein Coding Gene
MGI:95609 | Gaa
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
37366541 | J:339186
First Author: El Haddad L
Year: 2023
Journal: Am J Physiol Lung Cell Mol Physiol
Title: GAA deficiency disrupts distal airway cells in Pompe disease.
Volume: 325
Issue: 3
Pages: L288-L298
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Publication
34850579 | J:322135
First Author: Eggers M
Year: 2022
Journal: EMBO Mol Med
Title: Muscle-directed gene therapy corrects Pompe disease and uncovers species-specific GAA immunogenicity.
Volume: 14
Issue: 1
Pages: e13968
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Publication
36517654 | J:341582
First Author: Kan SH
Year: 2022
Journal: Sci Rep
Title: CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.
Volume: 12
Issue: 1
Pages: 21576
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Publication
34737297 | J:319480
First Author: Costa-Verdera H
Year: 2021
Journal: Nat Commun
Title: Hepatic expression of GAA results in enhanced enzyme bioavailability in mice and non-human primates.
Volume: 12
Issue: 1
Pages: 6393
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Publication
11590121 | J:72192
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
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GO Term
GO:0033459 | GAA codon-amino acid adaptor activity
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Publication
25036864 | J:219022
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
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Publication
1794057 | J:461
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
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Publication
15233994 | J:91581
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
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Publication
32587263 | J:294027
First Author: Huang JY
Year: 2020
Journal: Sci Rep
Title: CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness.
Volume: 10
Issue: 1
Pages: 10321
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Publication
17027913 | J:114503
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
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Publication
27017193 | J:232124
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
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Publication
17572127 | J:123038
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
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Publication
35682977 | J:327522
 
First Author: Aguilar-González A
Year: 2022
Journal: Int J Mol Sci
Title: Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies.
Volume: 23
Issue: 11
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Publication
9384603 | J:45386
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
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Publication
12739885 | J:82912
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
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Publication
37371072 | J:337456
 
First Author: Rohm M
Year: 2023
Journal: Cells
Title: Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model.
Volume: 12
Issue: 12
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Publication
18505932 | J:141812
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
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Publication
22815812 | J:189616
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
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Publication
33883348 | J:331625
First Author: McCall AL
Year: 2021
Journal: J Smooth Muscle Res
Title: Glycogen accumulation in smooth muscle of a Pompe disease mouse model.
Volume: 57
Issue: 0
Pages: 8-18
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Publication
24897114 | J:217332
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
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Publication
28874182 | J:308147
First Author: Hordeaux J
Year: 2017
Journal: Acta Neuropathol Commun
Title: Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease.
Volume: 5
Issue: 1
Pages: 66
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Publication
22494547 | J:184129
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
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Publication
27614205 | J:242630
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
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Publication
25217571 | J:217756
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
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Publication
29187643 | J:252843
 
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
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Publication
28336814 | J:242850
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
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Publication
25231351 | J:223886
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
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Publication
16005263 | J:321724
First Author: Franco LM
Year: 2005
Journal: Mol Ther
Title: Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
Volume: 12
Issue: 5
Pages: 876-84
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Publication
21747768 | J:290922
 
First Author: Lee KZ
Year: 2011
Journal: Front Physiol
Title: Hypoglossal neuropathology and respiratory activity in pompe mice.
Volume: 2
Pages: 31
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Publication
17245350 | J:308077
First Author: Mah C
Year: 2007
Journal: Mol Ther
Title: Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors.
Volume: 15
Issue: 3
Pages: 501-7
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Publication
33953320 | J:321723
First Author: Wang J
Year: 2021
Journal: Commun Biol
Title: Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.
Volume: 4
Issue: 1
Pages: 524
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Publication
20554235 | J:162416
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
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Allele
Tg(CMV-GAA*P545L)#Kjv | MGI:5620661
Name: transgene insertion, Kenneth J Valenzano
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
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Publication
17022935 | J:114495
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
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Publication
15169761 | J:106533
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
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Publication
15839836 | J:117551
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
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Publication
17924344 | J:135964
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
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Publication
11425943 | J:117911
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
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Publication
10233847 | J:54346
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
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Publication
19959526 | J:155876
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
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Publication
27358407 | J:235790
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
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Publication
33039711 | J:328076
 
First Author: Colella P
Year: 2020
Journal: EBioMedicine
Title: Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects.
Volume: 61
Pages: 103052
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Publication
11785984 | J:73924
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
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Publication
24448824 | J:212055
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
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Publication
21397538 | J:172080
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
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Publication
23457523 | J:197182
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
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Publication
12409258 | J:103961
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
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Publication
19167256 | J:146894
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
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Publication
15356673 | J:279205
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
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Author
Gaa A
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Author
Burke GAA
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Protein Coding Gene
MGP_CAROLIEiJ_G0017494 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0019477 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0019445 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0019415 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0019420 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0019226 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_95609 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0019869 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0018780 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0019197 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0019309 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0019301 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0019379 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0019334 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0019908 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0018546 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0018832 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0018621 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0018338 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
10547605 | J:58096
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
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Publication
12115977 | J:113067
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
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Publication
11328962 | J:70048
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
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Publication
17826266 | J:128387
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
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Publication
15674828 | J:105167
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
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Publication
15207257 | J:120391
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
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Publication
20385789 | J:162812
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
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Publication
10838256 | J:76435
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
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Publication
9668092 | J:48839
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
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Publication
29118420 | J:256944
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
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Publication
28170191 | J:303231
First Author: Sato Y
Year: 2017
Journal: Stem Cells Transl Med
Title: Metabolomic Profiling of Pompe Disease-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals That Oxidative Stress Is Associated with Cardiac and Skeletal Muscle Pathology.
Volume: 6
Issue: 1
Pages: 31-39
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Publication
23041258 | J:190384
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
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Publication
33214573 | J:300230
First Author: Lee NC
Year: 2020
Journal: Sci Rep
Title: Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice.
Volume: 10
Issue: 1
Pages: 20239
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Publication
38129558 | J:343629
First Author: Rohm M
Year: 2023
Journal: Sci Rep
Title: Muscle diffusion MRI reveals autophagic buildup in a mouse model for Pompe disease.
Volume: 13
Issue: 1
Pages: 22822
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Publication
18307520 | J:133581
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
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Publication
37085544 | J:335205
First Author: Watkins B
Year: 2023
Journal: Sci Rep
Title: Degeneration of muscle spindles in a murine model of Pompe disease.
Volume: 13
Issue: 1
Pages: 6555
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Publication
17510371 | J:126885
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
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Publication
35351934 | J:322807
First Author: Nagy JA
Year: 2022
Journal: Sci Rep
Title: Altered electrical properties in skeletal muscle of mice with glycogen storage disease type II.
Volume: 12
Issue: 1
Pages: 5327
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Publication
20223998 | J:185846
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
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

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