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Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.

A J Reuser, … , J M Tager, H Galjaard

A J Reuser, … , J M Tager, H Galjaard

Published June 1, 1987
Citation Information: J Clin Invest. 1987;79(6):1689-1699. https://doi.org/10.1172/JCI113008.

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Title and authors	Publication	Year
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort. Moghimi P, Hashemi-Gorji F, Jamshidi S, Tehrani Fateh S, Salehpour S, Sadeghi H, Norouzi Rostami F, Mirfakhraie R, Miryounesi M, Ghasemi MR	Biochemical Genetics	2024
Reduction of Autophagic Accumulation in Pompe Disease Mouse Model Following Gene Therapy AL McCall, SG Stankov, G Cowen, D Cloutier, Z Zhang, L Yang, N Clement, DJ Falk, BJ Byrne	Current gene therapy	2019
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan Y Fukuhara, N Fuji, N Yamazaki, A Hirakiyama, T Kamioka, JH Seo, R Mashima, M Kosuga, T Okuyama	Molecular Genetics and Metabolism Reports	2018
Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults JC Bueno, CA Sánchez, FS de Sotomayor, S Izquierdo-Álvarez, MD Gallart, JS García	Neurología (English Edition)	2018
Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease J Guevara-Campos, L González-Guevara, O Cauli	Neuromuscular Disorders	2018
Nueva variante probablemente patogénica c.1249A>C en el exón 7 del gen GAA asociada a la enfermedad de Pompe del adulto JC Bueno, CA Sánchez, FS de Sotomayor, S Izquierdo-Álvarez, MD Gallart, JS García	Neurologia (Barcelona, Spain)	2017
Valores de referencia de la actividad enzimática alfa-glucosidasa ácida linfocitaria BC Figueruelo, PD Parejo, JB Lobato, LM Jiménez	Revista del Laboratorio Clínico	2016
Neuromuscular Disorders in Clinical Practice B Katirji, HJ Kaminski, RL Ruff		2013
The genotype-phenotype correlation in Pompe disease M Kroos, M Hoogeveen-Westerveld, A der Ploeg, AJ Reuser	American Journal of Medical Genetics Part C Seminars in Medical Genetics	2012
Swaiman's Pediatric Neurology GM Enns, TM Cowan, O Klein, S Packman	Swaiman's Pediatric Neurology	2012
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations A Herzog, R Hartung, AJ Reuser, P Hermanns, H Runz, N Karabul, S Gökce, J Pohlenz, C Kampmann, C Lampe, M Beck, E Mengel	Orphanet Journal of Rare Diseases	2012
Discovery of a novel non-iminosugar acid alpha glucosidase chaperone series J Xiao, W Westbroek, O Motabar, WA Lea, X Hu, A Velayati, W Zheng, N Southall, AM Gustafson, E Goldin, E Sidransky, K Liu, A Simeonov, RJ Tamargo, A Ribes, L Matalonga, M Ferrer, JJ Marugan	Journal of Medicinal Chemistry	2012
Discovery, SAR, and Biological evaluation of Non-Inhibitory Small Molecule Chaperones of Glucocerebrosidase S Patnaik, W Zheng, JH Choi, O Motabar, N Southall, W Westbroek, WA Lea, A Velayati, E Goldin, E Sidransky, W Leister, JJ Marugan	Journal of Medicinal Chemistry	2012
JIMD Reports - Case and Research Reports, 2012/4 G Brown, E Morava, V Peters, KM Gibson, J Zschocke	JIMD Reports - Case and Research Reports, 2012/4	2012
Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain S DiMauro, C Garone	Seminars in Fetal and Neonatal Medicine	2011
Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity DS Bali, AA Tolun, JL Goldstein, J Dai, PS Kishnani	Muscle & Nerve	2011
Novel Mutations in the Gene Encoding Acid α-1,4-glucosidase in a Patient with Late-onset Glycogen Storage Disease Type II (Pompe Disease) with Impaired Intelligence T Muraoka, K Murao, H Imachi, F Kikuchi, T Yoshimoto, H Iwama, H Hosokawa, I Nishino, T Fukuda, H Sugie, K Adachi, E Nanba, T Ishida	Internal Medicine	2011
Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators JJ Marugan, W Zheng, O Motabar, N Southall, E Goldin, E Sidransky, RA Aungst, K Liu, SK Sadhukhan, CP Austin	European Journal of Medicinal Chemistry	2010
A new resorufin-based alpha-glucosidase assay for high-throughput screening O Motabar, ZD Shi, E Goldin, K Liu, N Southall, E Sidransky, CP Austin, GL Griffiths, W Zheng	Analytical Biochemistry	2009
Enzymatic and molecular strategies to diagnose Pompe disease AJ Reuser, FW Verheijen, MA Kroos, T Okumiya, OP Diggelen, AT der Ploeg, DJ Halley	Expert Opinion on Medical Diagnostics	2009
Progress in enzyme replacement therapy in glycogen storage disease type II C Angelini, C Semplicini, P Tonin, M Filosto, E Pegoraro, G Sorarù, M Fanin	Therapeutic advances in neurological disorders	2009
Nutritional Therapy for Glycogen Storage Diseases S Heller, L Worona, A Consuelo	Journal of Pediatric Gastroenterology and Nutrition	2008
Pompe's disease AT van der Ploeg, AJ Reuser	The Lancet	2008
Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II T Okumiya, MA Kroos, LV Vliet, H Takeuchi, AT van der Ploeg, AJ Reuser	Molecular Genetics and Metabolism	2007
Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase" Y Tajima, F Matsuzawa, S Aikawa, T Okumiya, M Yoshimizu, T Tsukimura, M Ikekita, S Tsujino, A Tsuji, T Edmunds, H Sakuraba	Journal of Human Genetics	2007
Glycogen storage diseases: new perspectives H Ozen	World journal of gastroenterology : WJG	2007
Lysosomal Storage Disorders JA Barranger, MA Cabrera-Salazar		2007
Correlation of acid α-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease K Umapathysivam, JJ Hopwood, PJ Meikle	Clinica Chimica Acta	2005
Pregnancy in a healthy woman with untreated citrullinemia MA Potter, S Zeesman, B Brennan, K Kobayashi, HZ Gao, A Tabata, T Saheki, DT Whelan	American Journal of Medical Genetics	2004
Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II MM Hermans, D Leenen, MA Kroos, CE Beesley, AT van der Ploeg, H Sakuraba, R Wevers, W Kleijer, H Michelakakis, EP Kirk, J Fletcher, N Bosshard, L Basel-Vanagaite, G Besley, AJ Reuser	Human Mutation	2003
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) R Fernandez-Hojas, ML Huie, C Navarro, C Dominguez, M Roig, D Lopez-Coronas, S Teijeira, K Anyane-Yeboa, R Hirschhorn	Neuromuscular Disorders	2002
THE MOLECULAR DIAGNOSIS OF METABOLIC MYOPATHIES GD Vladutiu	Neurologic Clinics	2000
Neonatal metabolic myopathies I Tein	Seminars in Perinatology	1999
Decreased activity of acid α-glucosidase in a patient with persistent periocular swelling after infusions of hydroxyethyl starch Kiehl, Metze, Kresse, Reimann, Kraft, Kapp	British Journal of Dermatology	1998
Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry MM Hermans, MA Kroos, JA Smeitink, AT van der Ploeg, WJ Kleijer, AJ Reuser	Human Mutation	1998
Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: Evidence for a founder effect JJ Shieh, CY Lin	Human Mutation	1998
Glycogen-Storage Disease Type II (Acid Maltase Deficiency): Identification of a Novel Small Deletion (delCC482+483) in French Patients M Nicolino, JP Puech, F Letourneur, M Fardeau, A Kahn, L Poenaru	Biochemical and Biophysical Research Communications	1997
A mutation in a highly conserved region in brush-border sucrase-isomaltase and lysosomal alpha-glucosidase results in Golgi retention CE Moolenaar, J Ouwendijk, M Wittpoth, HA Wisselaar, HP Hauri, LA Ginsel, HY Naim, JA Fransen	Journal of cell science	1997
Genetic defects in patients with glycogenosis type II (acid maltase deficiency) N Raben, RC Nichols, C Boerkoel, P Plotz	Muscle & Nerve	1995
Glycogenosis type II (acid maltase deficiency) AJ Reuser, MA Kroos, MM Hermans, AG Bijvoet, MP Verbeet, OP van Diggelen, WJ Kleijer, AT van der Ploeg	Muscle & Nerve	1995
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II CF Boerkoel, R Exelbert, C Nicastri, RC Nichols, FW Miller, PH Plotz, N Raben	The American Journal of Human Genetics	1995
Lysosomal storage diseases V Gieselmann	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease	1995
An evaluation of the potential side-effects of α-glucosidase inhibitors used for the management of diabetes mellitus AJ Reuser, HA Wisselaar	European Journal of Clinical Investigation	1994
Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II MM Hermans, MA Kroos, ED Graaff, BA Oostra, AJ Reuser	Human Mutation	1993
Synthesis and In Situ Localization of Lysosomal α-Glucosidase in Muscle of an Unusual Variant of Glycogen Storage Disease Type II R Willemsen, AT van der Ploeg, HF Busch, PE Zondervan, CJ van Noorden, AJ Reuser	Ultrastructural Pathology	1993
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 MM Hermans, E Graaff, MA Kroos, HA Wisselaar, R Willemsen, BA Oostra, AJ Reuser	Biochemical Journal	1993
Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites MM Hermans, HA Wisselaar, MA Kroos, BA Oostra, AJ Reuser	Biochemical Journal	1993
Preparation of Monoclonal Antibodies Against Acid α-D-Glucosidase for Study of Chinese Glycogenosis Type II Patients CY Lin, SY Lee, ZN Chang, SN Su, B Hwang, SH Han	Hybridoma	1992
Recombinant Human Acid α-Glucosidase Generated in Bacteria: Antigenic, but Enzymatically Inactive F Martiniuk, S Tzall, A Chen	DNA and Cell Biology	1992
Lysosomal β-hexosaminidase is highly resistant towards proteolytic degradation in vitro B Overdijk, EP Beem, CJ der Wal, CA Jongenelen	International Journal of Biochemistry	1992
?Reducing body?-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency V Jay, J Christodoulou, A Mercer-Connolly, RR McInnes	Acta Neuropathologica	1992
Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice AT van der Ploeg, MA Kroos, R Willemsen, NH Brons, AJ Reuser	Journal of Clinical Investigation	1991
Identification of a Missense Mutation in an Adult-Onset Patient with Glycogenosis Type II Expressing Only One Allele F Martiniuk, M Mehler, M Bodkin, S Tzall, K Hirschhorn, N Zhong, R Hirschhorn	DNA and Cell Biology	1991
Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male AM Chancellor, CP Warlow, JN Webb, MG Lucas, GT Besley, DM Broadhead	Journal of neurology, neurosurgery, and psychiatry	1991
Identification of the promoter region and gene expression for human acid alpha glucosidase S Tzall, F Martiniuk	Biochemical and Biophysical Research Communications	1991
Identification of a point mutation in the human lysosomal α-glucosidase gene causing infantile glycogenosis type II MM Hermans, E Graaff, MA Kroos, HA Wisselaar, BA Oostra, AJ Reuser	Biochemical and Biophysical Research Communications	1991
Biosynthesis of human α-N-acetylgalactosaminidase: Defective phosphorylation and maturation in infantile α-NAGA deficiency P Hu, AJ Reuser, HC Janse, WJ Kleijer, D Schindler, H Sakuraba, A Tsuji, Y Suzuki, OP Diggelen	Biochemical and Biophysical Research Communications	1991
Quantitative relationship of lysosomal glycogen accumulation to lysosomal α-glucosidase inhibition in castanospermine-treated rats BL Rhinehart, ME Begovic, KM Robinson	Biochemical Pharmacology	1991
Antenatal Diagnosis of Fetal Abnormalities JO Drife, D Donnai		1991
Muscle glycogenosis SW Moses	Journal of Inherited Metabolic Disease	1990
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 F Martiniuk, M Mehler, S Tzall, G Meredith, R Hirschhorn	DNA and Cell Biology	1990
Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells F Martiniuk, M Bodkin, S Tzall, R Hirschhorn	The American Journal of Human Genetics	1990
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA F Martiniuk, M Mehler, S Tzall, G Meredith, R Hirschhorn	The American Journal of Human Genetics	1990
Adult and infantile glycogenosis type II in one family, explained by allelic diversity LH Hoefsloot, AT van der Ploeg, MA Kroos, M Hoogeveen-Westerveld, BA Oostra, AJ Reuser	The American Journal of Human Genetics	1990
Characterization of the human lysosomal alpha-glucosidase gene LH Hoefsloot, M Hoogeveen-Westerveld, AJ Reuser, BA Oostra	Biochemical Journal	1990
Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells LH Hoefsloot, R Willemsen, MA Kroos, M Hoogeveen-Westerveld, MM Hermans, AT van der Ploeg, BA Oostra, AJ Reuser	Biochemical Journal	1990
Diagnosis of glycogen storage disease YS Shin	Journal of Inherited Metabolic Disease	1990
9 The genetics of metabolic disorders of muscle J Poulton, J Land	Baillière's Clinical Endocrinology and Metabolism	1990
5 Normal metabolism and disorders of carbohydrate metabolism T Barsy, HG Hers	Baillière's Clinical Endocrinology and Metabolism	1990
Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria RA Harkness, RJ Pollitt, GM Addison		1990
Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins AT van der Ploeg, LH Hoefsloot, M Hoogeveen-Westerveld, EM Petersen, AJ Reuser	The American Journal of Human Genetics	1989
An investigation of the possible influence of neutral ?-glucosidases on the clinical heterogeneity of glycogenosis type II AT van der PLOEG, MA Kroos, DM Swallow, AJ Reuser	Annals of Human Genetics	1989
Effects of N-hydroxyethyl-1-deoxynojirimycin (BAY m 1099) on the activity of neutral- and acid α-glucosidases in human fibroblasts and HepG2 cells HA Wisselaar, JM Dongen, AJ Reuser	Clinica Chimica Acta	1989
Mature 98,000-dalton acid ?-glucosidase is deficient in Japanese quails with acid maltase deficiency Y Suhara, S Ishiura, T Tsukahara, H Sugita	Muscle & Nerve	1989
An investigation of the properties and possible clinical significance of the lysosomal ?-glucosidase GAA 2 allele DM Swallow, M Kroos, AT van der PLOEG, B Griffiths, I Islam, CB Marenah, AJ Reuser	Annals of Human Genetics	1989
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex LH Hoefsloot, M Hoogeveen-Westerveld, MA Kroos, J Beeumen, AJ Reuser, BA Oostra	The EMBO Journal	1988
Alterations of the posttranslational processing of a lysosomal enzyme in C6 glioma cells DS Snyder, JN Whitaker	Journal of Neuroscience Research	1988
Km mutant of acid α-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement Y Suzuki, A Tsuji, K Omura, G Nakamura, S Awa, M Kroos, AJ Reuser	Clinical Genetics	1988
Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells AT Ploeg, PA Bolhuis, RA Wolterman, JW Visser, MC Loonen, HF Busch, AJ Reuser	Journal of Neurology	1988
Lipid Storage Disorders R Salvayre, L Douste-Blazy, S Gatt		1988
Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid α-glucosidase AT van der Ploeg, M Kroos, JM van Dongen, WJ Visser, PA Bolhuis, MC Loonen, AJ Reuser	Journal of the Neurological Sciences	1987
Cell-free translation of human lysosomal α-glucosidase: Evidence for reduced precursor synthesis in an adult patient with glycogenosis type II GT van der Horst, EH Hoefsloot, MA Kroos, AJ Reuser	Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression	1987
Metabolic myopathies S DiMauro, AF Miranda, S Sakoda, EA Schon, S Servidei, S Shanske, M Zeviani, JM Opitz, JF Reynolds	American Journal of Medical Genetics	1986
Clinical Chemistry RM Archibald	Analytical Chemistry	1953

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