| Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B). | Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M. | 11/1/2023 |
| Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants. | Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong HY, Chew HB, Sivabalakrishnan JB, Ngu LH., Free PMC Article | 08/7/2023 |
| Phase I study of liver depot gene therapy in late-onset Pompe disease. | Phase I study of liver depot gene therapy in late-onset Pompe disease.
Smith EC, Hopkins S, Case LE, Xu M, Walters C, Dearmey S, Han SO, Spears TG, Chichester JA, Bossen EH, Hornik CP, Cohen JL, Bali D, Kishnani PS, Koeberl DD., | 08/4/2023 |
| 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. | 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.
Kan SH, Huang JY, Harb J, Rha A, Dalton ND, Christensen C, Chan Y, Davis-Turak J, Neumann J, Wang RY., Free PMC Article | 01/11/2023 |
| Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene. | Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.
Tokatly Latzer I, Sagi L, Bali DS, Rehder C, Orbach R, Fattal-Valevski A. | 04/16/2022 |
| Broad variation in phenotypes for common GAA genotypes in Pompe disease. | Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY, In't Groen SLM, de Faria DOS, Hoogeveen-Westerveld M, van den Hout HJMP, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP., Free PMC Article | 03/26/2022 |
| Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes. | Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
Chawla T, Preethish-Kumar V, Polavarapu K, Vengalil S, Bardhan M, Puri R, Verma J, Christopher R, Supriya M, Nashi S, Prasad C, Nadeesh B, Nalini A. | 03/12/2022 |
| Phenotypic implications of pathogenic variant types in Pompe disease. | Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte MA, Filipp SL, Zaidi Z, Gurka MJ, Byrne BJ, Kang PB. | 02/12/2022 |
| Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants. | Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.
Amiñoso C, Solera J. | 12/4/2021 |
| GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease. | GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.
Gharesouran J, Jalaiei A, Hosseinzadeh A, Ghafouri-Fard S, Mokhtari Z, Ghahremanzadeh K, Rezazadeh N, Shiva S, Sadeghvand S, Taheri M, Rezazadeh M. | 10/23/2021 |
| In silico assessment of potential leads identified from Bauhinia rufescens Lam. as alpha-glucosidase and alpha-amylase inhibitors. | In silico assessment of potential leads identified from Bauhinia rufescens Lam. as α-glucosidase and α-amylase inhibitors.
Osman W, Ismail EMOA, Shantier SW, Mohammed MS, Mothana RA, Muddathir A, Khalid HS. | 10/16/2021 |
| GAA deficiency promotes angiogenesis through upregulation of Rac1 induced by autophagy disorder. | GAA deficiency promotes angiogenesis through upregulation of Rac1 induced by autophagy disorder.
Li Z, Li B, Wang J, Lu Y, Chen AFY, Sun K, Yu Y, Chen S. | 09/18/2021 |
| The Release of a Soluble Glycosylated Protein from Glycogen by Recombinant Lysosomal alpha-Glucosidase (rhGAA) In Vitro and Its Presence in Serum In Vivo. | The Release of a Soluble Glycosylated Protein from Glycogen by Recombinant Lysosomal α-Glucosidase (rhGAA) In Vitro and Its Presence in Serum In Vivo.
Murray AK., Free PMC Article | 09/11/2021 |
| Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase. | Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase.
Selvan N, Mehta N, Venkateswaran S, Brignol N, Graziano M, Sheikh MO, McAnany Y, Hung F, Madrid M, Krampetz R, Siano N, Mehta A, Brudvig J, Gotschall R, Weimer JM, Do HV., Free PMC Article | 09/4/2021 |
| Suppression of lysosomal acid alpha-glucosidase impacts the modulation of transcription factor EB translocation in pancreatic cancer. | Suppression of lysosomal acid alpha-glucosidase impacts the modulation of transcription factor EB translocation in pancreatic cancer.
Hamura R, Shirai Y, Shimada Y, Saito N, Taniai T, Horiuchi T, Takada N, Kanegae Y, Ikegami T, Ohashi T, Yanaga K., Free PMC Article | 06/12/2021 |
| Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease. | Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.
Su X, Sheng H, Huang Y, Li X, Zhang W, Zhao X, Li C, Liu L. | 06/5/2021 |
| GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease. | GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease.
Jia X, Shao L, Liu C, Chen T, Peng L, Cao Y, Zhang C, Yang X, Zhang G, Gao J, Fan G, Gu M, Du H, Xia Z., Free PMC Article | 04/24/2021 |
| Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families. | Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families.
Ullah A, Zubaida B, Cheema HA, Naeem M. | 03/6/2021 |
| Identification of Undetected Monogenic Cardiovascular Disorders. | Identification of Undetected Monogenic Cardiovascular Disorders.
Abdulrahim JW, Kwee LC, Alenezi F, Sun AY, Baras A, Ajayi TA, Henao R, Holley CL, McGarrah RW, Daubert JP, Truby LK, Vemulapalli S, Wang A, Khouri MG, Shah SH., Free PMC Article | 01/23/2021 |
| Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations. | Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.
Alila-Fersi O, Aloulou H, Werteni I, Mahfoudh N, Chabchoub I, Kammoun H, Keskes L, Hachicha M, Belguith N, Fakhfakh F. | 01/23/2021 |
| Missense mutations in the catalytic domain of GAA protein is associated with Pompe disease. | A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar D, Umer Niazullah M, Tasneem S, Judith E, Susmita B, George Priya Doss C, Selvarajan E, Zayed H. | 07/18/2020 |
| Through blind predictions of residual enzymatic activity in human acid alpha-glucosidase (GAA) mutants, data demonstrate that gene-specific features can provide clues for investigating origin of variant pathogenicity, particularly for variants that are poorly predicted by existing methods. | Gene-specific features enhance interpretation of mutational impact on acid α-glucosidase enzyme activity.
Adhikari AN., Free PMC Article | 03/14/2020 |
| Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. | Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J., Free PMC Article | 12/7/2019 |
| 28 novel mutations were identified in the GAA gene in patients with late-onset Pompe disease. Patients carrying the c.-32-13T>G mutation had an older mean age at onset than patients without this mutation. | Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P, French Pompe Study Group. | 11/9/2019 |
| Onset of symptoms including delay in achievement of gross motor milestones, signs of proximal muscle weakness, swallow and feeding difficulties, and sleep apnea in the first two years of life is not uncommon in individuals with late-onset Pompe disease and the c.-32-13T>G variant. | Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.
Herbert M, Case LE, Rairikar M, Cope H, Bailey L, Austin SL, Kishnani PS., Free PMC Article | 08/10/2019 |