"Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex."
Hoefsloot L.H. , Hoogeveen-Westerveld M. , Kroos M.A. , van Beeumen J. , Reuser A.J.J. , Oostra B.A.
EMBO J.7:1697-1704(1988) [PubMed] [Europe PMC] [Abstract]

Reuser A.J.J.
Submitted (1990-06) to the EMBL/GenBank/DDBJ databases

"Characterization of the human lysosomal alpha-glucosidase gene."
Hoefsloot L.H. , Hoogeveen-Westerveld M. , Reuser A.J.J. , Oostra B.A.
Biochem. J.272:493-497(1990) [PubMed] [Europe PMC] [Abstract]

"Sequence of the cDNA and 5'-flanking region for human acid alpha-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."
Martiniuk F. , Mehler M. , Tzall S. , Meredith G. , Hirschhorn R.
DNA Cell Biol.9:85-94(1990) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel mutation in the acid alpha glucosidase gene causing juvenile form of Pompe disease in Iranian population."
Ghaffari S.R. , Sabokbar T. , Tahmasebi S. , Dastan J.
Submitted (2006-08) to the EMBL/GenBank/DDBJ databases

"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C. , Garber M. , Adams D.J. , Sharpe T. , Harrow J. , Lupski J.R. , Nicholson C. , Searle S.M. , Wilming L. , Young S.K. , Abouelleil A. , Allen N.R. , Bi W. , Bloom T. , Borowsky M.L. , Bugalter B.E. , Butler J. , Chang J.L. , Chen C.-K. , Cook A. , Corum B. , Cuomo C.A. , de Jong P.J. , DeCaprio D. , Dewar K. , FitzGerald M. , Gilbert J. , Gibson R. , Gnerre S. , Goldstein S. , Grafham D.V. , Grocock R. , Hafez N. , Hagopian D.S. , Hart E. , Norman C.H. , Humphray S. , Jaffe D.B. , Jones M. , Kamal M. , Khodiyar V.K. , LaButti K. , Laird G. , Lehoczky J. , Liu X. , Lokyitsang T. , Loveland J. , Lui A. , Macdonald P. , Major J.E. , Matthews L. , Mauceli E. , McCarroll S.A. , Mihalev A.H. , Mudge J. , Nguyen C. , Nicol R. , O'Leary S.B. , Osoegawa K. , Schwartz D.C. , Shaw-Smith C. , Stankiewicz P. , Steward C. , Swarbreck D. , Venkataraman V. , Whittaker C.A. , Yang X. , Zimmer A.R. , Bradley A. , Hubbard T. , Birren B.W. , Rogers J. , Lander E.S. , Nusbaum C. more...
Nature440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Identification of a de novo point mutation resulting in infantile form of Pompe's disease."
Lin C.-Y. , Shieh J.-J.
Biochem. Biophys. Res. Commun.208:886-893(1995) [PubMed] [Europe PMC] [Abstract]

"Human lysosomal alpha-glucosidase. Characterization of the catalytic site."
Hermans M.M.P. , Kroos M.A. , van Beeumen J. , Oostra B.A. , Reuser A.J.J.
J. Biol. Chem.266:13507-13512(1991) [PubMed] [Europe PMC] [Abstract]

"Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites."
Hermans M.M.P. , Wisselaar H.A. , Kroos M.A. , Oostra B.A. , Reuser A.J.J.
Biochem. J.289:681-686(1993) [PubMed] [Europe PMC] [Abstract]

"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
Zhang H. , Li X.-J. , Martin D.B. , Aebersold R.
Nat. Biotechnol.21:660-666(2003) [PubMed] [Europe PMC] [Abstract]

"Glycogenosis type II (acid maltase deficiency)."
Reuser A.J.J. , Kroos M.A. , Hermans M.M.P. , Bijvoet A.G.A. , Verbeet M.P. , van Diggelen O.P. , Kleijer W.J. , van der Ploeg A.T.
Muscle Nerve3:S61-S69(1995) [PubMed] [Europe PMC] [Abstract]

"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T. , Qian W.-J. , Gritsenko M.A. , Camp D.G. II , Monroe M.E. , Moore R.J. , Smith R.D.
J. Proteome Res.4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]

"Integral and associated lysosomal membrane proteins."
Schroeder B. , Wrocklage C. , Pan C. , Jaeger R. , Koesters B. , Schaefer H. , Elsaesser H.-P. , Mann M. , Hasilik A.
Traffic8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"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."
Martiniuk F. , Bodkin M. , Tzall S. , Hirschhorn R.
Am. J. Hum. Genet.47:440-445(1990) [PubMed] [Europe PMC] [Abstract]

"Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele."
Zhong N. , Martiniuk F. , Tzall S. , Hirschhorn R.
Am. J. Hum. Genet.49:635-645(1991) [PubMed] [Europe PMC] [Abstract]

"Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II."
Hermans M.M.P. , de Graaff E. , Kroos M.A. , Wisselaar H.A. , Oostra B.A. , Reuser A.J.J.
Biochem. Biophys. Res. Commun.179:919-926(1991) [PubMed] [Europe PMC] [Abstract]

"Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II."
Hermans M.M.P. , Kroos M.A. , de Graaff E. , Oostra B.A. , Reuser A.J.J.
Hum. Mutat.2:268-273(1993) [PubMed] [Europe PMC] [Abstract]

"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."
Hermans M.M.P. , de Graaff E. , Kroos M.A. , Wisselaar H.A. , Willemsen R. , Oostra B.A. , Reuser A.J.J.
Biochem. J.289:687-693(1993) [PubMed] [Europe PMC] [Abstract]

"Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele."
Martiniuk F. , Mehler M. , Bodkin M. , Tzall S. , Hirschhorn K. , Zhong N. , Hirschhorn R.
DNA Cell Biol.10:681-687(1991) [PubMed] [Europe PMC] [Abstract]

"The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks."
Hermans M.M.P. , Svetkey L.P. , Oostra B.A. , Chen Y.T. , Reuser A.J.J.
Genomics16:300-301(1993) [PubMed] [Europe PMC] [Abstract]

"Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)."
Huie M.L. , Hirschhorn R. , Chen A.S. , Martiniuk F. , Zhong N.
Hum. Mutat.4:291-293(1994) [PubMed] [Europe PMC] [Abstract]

"A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)."
Huie M.L. , Chen A.S. , Brooks S.S. , Grix A. , Hirschhorn R.
Hum. Mol. Genet.3:1081-1087(1994) [PubMed] [Europe PMC] [Abstract]

"The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (Pro545Leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II."
Hermans M.M.P. , de Graaff E. , Kroos M.A. , Mohkamsing S. , Eussen B.J. , Joosse M. , Willemsen R. , Kleijer W.J. , Oostra B.A. , Reuser A.J.J.
Hum. Mol. Genet.3:2213-2218(1994) [PubMed] [Europe PMC] [Abstract]

"Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II."
Boerkoel C.F. , Exelbert R. , Nicastri C. , Nichols R.C. , Miller F.W. , Plotz P.H. , Raben N.
Am. J. Hum. Genet.56:887-897(1995) [PubMed] [Europe PMC] [Abstract]

"Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4)."
Huie M.L. , Menaker M. , McAlpine P.J. , Hirschhorn R.
Ann. Hum. Genet.60:365-368(1996) [PubMed] [Europe PMC] [Abstract]

"Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype."
Tsunoda H. , Ohshima T. , Tohyama J. , Sasaki M. , Sakuragawa N. , Martiniuk F.
Hum. Genet.97:496-499(1996) [PubMed] [Europe PMC] [Abstract]

"Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype."
Huie M.L. , Tsujino S. , Brooks S.S. , Engel A. , Elias E. , Bonthron D.T. , Bessley C. , Shanske S. , Dimauro S. , Goto Y. , Hirschhorn R.
Biochem. Biophys. Res. Commun.244:921-927(1998) [PubMed] [Europe PMC] [Abstract]

"Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene."
Kroos M.A. , van Leenen D. , Verbiest J. , Reuser A.J.J. , Hermans M.M.P.
Clin. Genet.53:379-382(1998) [PubMed] [Europe PMC] [Abstract]

"Glycogen storage disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry."
Hermans M.M.P. , Kroos M.A. , Smeitink J.A.M. , van der Ploeg A.T. , Kleijer W.J. , Reuser A.J.J.
Hum. Mutat.11:209-215(1998) [PubMed] [Europe PMC] [Abstract]

"The identification of five novel mutations in the lysosomal acid alpha-(1,4) glucosidase gene from patients with glycogen storage disease type II."
Beesley C.E. , Child A.H. , Yacoub M.Y.
Hum. Mutat.11:413-413(1998) [PubMed] [Europe PMC] [Abstract]

"Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients."
Vorgerd M. , Burwinkel B. , Reichmann H. , Malin J.-P. , Kilimann M.W.
Neurogenetics1:205-211(1998) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in African American patients with glycogen storage disease Type II."
Raben N. , Lee E. , Lee L. , Hirschhorn R. , Plotz P.H.
Hum. Mutat.13:83-84(1999) [PubMed] [Europe PMC] [Abstract]

"Molecular genetic study of Pompe disease in Chinese patients in Taiwan."
Ko T.-M. , Hwu W.-L. , Lin Y.-W. , Tseng L.-H. , Hwa H.-L. , Wang T.-R. , Chuang S.-M.
Hum. Mutat.13:380-384(1999) [PubMed] [Europe PMC] [Abstract]

"Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation."
Laforet P. , Nicolino M. , Eymard P.B. , Puech J.P. , Caillaud C. , Poenaru L. , Fardeau M.
Neurology55:1122-1128(2000) [PubMed] [Europe PMC] [Abstract]

"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)."
Fernandez-Hojas R. , Huie M.L. , Navarro C. , Dominguez C. , Roig M. , Lopez-Coronas D. , Teijeira S. , Anyane-Yeboa K. , Hirschhorn R.
Neuromuscul. Disord.12:159-166(2002) [PubMed] [Europe PMC] [Abstract]

"Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II."
Pittis M.G. , Montalvo A.L. , Miocic S. , Martini C. , Deganuto M. , Candusso M. , Ciana G. , Bembi B.
Am. J. Med. Genet. A121:225-230(2003) [PubMed] [Europe PMC] [Abstract]

"Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene."
Lam C.W. , Yuen Y.P. , Chan K.Y. , Tong S.F. , Lai C.K. , Chow T.C. , Lee K.C. , Chan Y.W. , Martiniuk F.
Neurology60:715-717(2003) [PubMed] [Europe PMC] [Abstract]

"New GAA mutations in Japanese patients with GSDII (Pompe disease)."
Pipo J.R. , Feng J.-H. , Yamamoto T. , Ohsaki Y. , Nanba E. , Tsujino S. , Sakuragawa N. , Martiniuk F. , Ninomiya H. , Oka A. , Ohno K.
Pediatr. Neurol.29:284-287(2003) [PubMed] [Europe PMC] [Abstract]

"Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II."
Hermans M.M.P. , van Leenen D. , Kroos M.A. , Beesley C.E. , Van der Ploeg A.T. , Sakuraba H. , Wevers R. , Kleijer W.J. , Michelakakis H. , Kirk E.P. , Fletcher J. , Bosshard N. , Basel-Vanagaite L. , Besley G. , Reuser A.J.J.
Hum. Mutat.23:47-56(2004) [PubMed] [Europe PMC] [Abstract]

"Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease."
Montalvo A.L.E. , Cariati R. , Deganuto M. , Guerci V. , Garcia R. , Ciana G. , Bembi B. , Pittis M.G.
Mol. Genet. Metab.81:203-208(2004) [PubMed] [Europe PMC] [Abstract]

"A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn."
Kroos M.A. , Kirschner J. , Gellerich F.N. , Hermans M.M. , Van der Ploeg A.T. , Reuser A.J. , Korinthenberg R.
Neuromuscul. Disord.14:371-374(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype."
Anneser J.M. , Pongratz D.E. , Podskarbi T. , Shin Y.S. , Schoser B.G.
Neurology64:368-370(2005) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease."
Dou W. , Gu X. , Fu L. , Peng C. , Zheng J. , Martiniuk F. , Sheng H.Z.
Clin. Chim. Acta374:145-146(2006) [PubMed] [Europe PMC] [Abstract]

"Two clinical forms of glycogen-storage disease type II in two generations of the same family."
Amartino H. , Painceira D. , Pomponio R.J. , Niizawa G. , Sabio Paz V. , Blanco M. , Chamoles N.
Clin. Genet.69:187-188(2006) [PubMed] [Europe PMC] [Abstract]

"Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II."
Montalvo A.L. , Bembi B. , Donnarumma M. , Filocamo M. , Parenti G. , Rossi M. , Merlini L. , Buratti E. , De Filippi P. , Dardis A. , Stroppiano M. , Ciana G. , Pittis M.G.
Hum. Mutat.27:999-1006(2006) [PubMed] [Europe PMC] [Abstract]

"Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients."
Muller-Felber W. , Horvath R. , Gempel K. , Podskarbi T. , Shin Y. , Pongratz D. , Walter M.C. , Baethmann M. , Schlotter-Weigel B. , Lochmuller H. , Schoser B.
Neuromuscul. Disord.17:698-706(2007) [PubMed] [Europe PMC] [Abstract]

"Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating."
Kroos M. , Pomponio R.J. , van Vliet L. , Palmer R.E. , Phipps M. , Van der Helm R. , Halley D. , Reuser A.
Hum. Mutat.29:E13-E26(2008) [PubMed] [Europe PMC] [Abstract]

"Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease."
Pittis M.G. , Donnarumma M. , Montalvo A.L.E. , Dominissini S. , Kroos M. , Rosano C. , Stroppiano M. , Bianco M.G. , Donati M.A. , Parenti G. , D'Amico A. , Ciana G. , Di Rocco M. , Reuser A. , Bembi B. , Filocamo M.
Hum. Mutat.29:E27-E36(2008) [PubMed] [Europe PMC] [Abstract]

"Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations."
Oba-Shinjo S.M. , da Silva R. , Andrade F.G. , Palmer R.E. , Pomponio R.J. , Ciociola K.M. , Carvalho S.M. , Gutierrez P.S. , Porta G. , Marrone C.D. , Munoz V. , Grzesiuk A.K. , Llerena J.C. Jr. , Berditchevsky C.R. , Sobreira C. , Horovitz D. , Hatem T.P. , Frota E.R. , Pecchini R. , Kouyoumdjian J.A. , Werneck L. , Amado V.M. , Camelo J.S. Jr. , Mattaliano R.J. , Marie S.K. more...
J. Neurol.256:1881-1890(2009) [PubMed] [Europe PMC] [Abstract]

"Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene."
Alcantara-Ortigoza M.A. , Gonzalez-del Angel A. , Barrientos-Rios R. , Cupples C. , Garrido-Garcia L.M. , de Leon-Bojorge B. , Alva-Chaire Adel C.
J. Child Neurol.25:1034-1037(2010) [PubMed] [Europe PMC] [Abstract]

"Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program."
Labrousse P. , Chien Y.H. , Pomponio R.J. , Keutzer J. , Lee N.C. , Akmaev V.R. , Scholl T. , Hwu W.L.
Mol. Genet. Metab.99:379-383(2010) [PubMed] [Europe PMC] [Abstract]

"Late form of Pompe disease with glycogen storage in peripheral nerves axons."
Fidzianska A. , Lugowska A. , Tylki-Szymanska A.
J. Neurol. Sci.301:59-62(2011) [PubMed] [Europe PMC] [Abstract]

"Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants."
Kroos M. , Hoogeveen-Westerveld M. , Michelakakis H. , Pomponio R. , Van der Ploeg A. , Halley D. , Reuser A. , Augoustides-Savvopoulou P. , Ausems M. , Llona J.B. , Bautista Lorite J. , van der Beek N. , Bonafe L. , Cuk M. , D'Hooghe M. , Engelen B. , Farouk A. , Fumic K. , Garcia-Delgado E. , Herzog A. , Hurst J. , Jones S. , Kariminejad M.H. , Kucukcongar A. , Lissens W. , Lund A. , Majoor-Krakauer D. , Kumamoto S. , Maravi E. , Marie S. , Mengel E. , Mavridou I. , Munteis Olivas E. , Najmabadi H. , Okumiya T. , Peric S. , Paschke E. , Plecko B. , Robberecht W. , Serdaroglu P. , Shboul M. , Tansek M.Z. , Tarnutzer A. , Stojanovic V.R. , Tylki-Szymanska A. , Venancio M. , Verhoeven K. more...
Hum. Mutat.33:1161-1165(2012) [PubMed] [Europe PMC] [Abstract]

"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."
Herzog A. , Hartung R. , Reuser A.J. , Hermanns P. , Runz H. , Karabul N. , Goekce S. , Pohlenz J. , Kampmann C. , Lampe C. , Beck M. , Mengel E.
Orphanet J. Rare Dis.7:35-35(2012) [PubMed] [Europe PMC] [Abstract]