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Search results 1 to 100 out of 224 for Gaa

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Category: Publication
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Type Details Score
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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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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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
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
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
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
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
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
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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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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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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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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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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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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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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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
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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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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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
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
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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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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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
26733885 | J:312246
 
First Author: Neel BA
Year: 2015
Journal: Front Physiol
Title: Identification of Atypical Peri-Nuclear Multivesicular Bodies in Oxidative and Glycolytic Skeletal Muscle of Aged and Pompe's Disease Mouse Models.
Volume: 6
Pages: 393
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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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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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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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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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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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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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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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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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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
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
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
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
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
31793879 | J:284535
   
First Author: Yambire KF
Year: 2019
Journal: Elife
Title: Impaired lysosomal acidification triggers iron deficiency and inflammation in vivo.
Volume: 8
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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
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
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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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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24417 | J:322985
First Author: Murray AK
Year: 1978
Journal: Arch Biochem Biophys
Title: The molecular heterogeneity of purified human liver lysosomal alpha-glucosidase (acid alpha-glucosidase).
Volume: 185
Issue: 2
Pages: 511-24
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3540946 | J:30929
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
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Publication
23726947 | J:203218
First Author: Yi H
Year: 2013
Journal: Mol Genet Metab
Title: Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation.
Volume: 109
Issue: 3
Pages: 312-4
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Publication
18648322 | J:274040
First Author: Sidman RL
Year: 2008
Journal: J Neuropathol Exp Neurol
Title: Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice.
Volume: 67
Issue: 8
Pages: 803-18
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Publication
23606558 | J:274005
First Author: Spampanato C
Year: 2013
Journal: EMBO Mol Med
Title: Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.
Volume: 5
Issue: 5
Pages: 691-706
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Publication
21179212 | J:169000
First Author: Takikita S
Year: 2010
Journal: PLoS One
Title: Fiber type conversion by PGC-1α activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle.
Volume: 5
Issue: 12
Pages: e15239
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Publication
22154081 | J:180309
First Author: Koeberl DD
Year: 2012
Journal: Mol Genet Metab
Title: β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.
Volume: 105
Issue: 2
Pages: 221-7
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Publication
18782848 | J:142536
First Author: Raben N
Year: 2008
Journal: Hum Mol Genet
Title: Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease.
Volume: 17
Issue: 24
Pages: 3897-908
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Publication
32428018 | J:289408
First Author: Belfiore MP
Year: 2020
Journal: PLoS One
Title: Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases.
Volume: 15
Issue: 5
Pages: e0233050
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Publication
20413686 | J:161333
First Author: Rawat R
Year: 2010
Journal: Am J Pathol
Title: Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle.
Volume: 176
Issue: 6
Pages: 2891-900
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Publication
20861693 | J:205669
First Author: Raben N
Year: 2010
Journal: Autophagy
Title: Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease.
Volume: 6
Issue: 8
Pages: 1078-89
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8530103 | J:28827
First Author: Bermingham JR Jr
Year: 1995
Journal: Genomics
Title: Chromosomal localization of mouse and human genes encoding the splicing factors ASF/SF2 (SFRS1) and SC-35 (SFRS2).
Volume: 29
Issue: 1
Pages: 70-9
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23342162 | J:195852
First Author: Xie Q
Year: 2013
Journal: PLoS One
Title: Pax6 interactions with chromatin and identification of its novel direct target genes in lens and forebrain.
Volume: 8
Issue: 1
Pages: e54507
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Publication
20080761 | J:156519
First Author: Mortensen M
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: Loss of autophagy in erythroid cells leads to defective removal of mitochondria and severe anemia in vivo.
Volume: 107
Issue: 2
Pages: 832-7
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Publication
17937387 | J:147857
First Author: Liu SP
Year: 2007
Journal: Hepatology
Title: Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liver.
Volume: 46
Issue: 5
Pages: 1413-25
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Publication
7323947 | J:6674
First Author: Stallings RL
Year: 1981
Journal: Somatic Cell Genet
Title: Confirmational, provisional, and/or regional assignment of 15 enzyme loci onto Chinese hamster autosomes 1, 2, and 7.
Volume: 7
Issue: 6
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