Publications:

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Clonal dynamics of haematopoiesis across the human lifespan.

Nature

Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ

Publication Date: 2022-06

Variant appearance in text: GAA: G549R

PubMed Link: 35650442

Variant Present in the following documents:

• 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1

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Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)

Borie-Guichot, Marc M; Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C

Publication Date: 2021-11-29

Variant appearance in text: GAA: G549R

PubMed Link: 34885805

Variant Present in the following documents:

• Main text
• molecules-26-07223.pdf

View BVdb publication page

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Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)

Borie-Guichot, Marc M; Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C

Publication Date: 2021-11-29

Variant appearance in text: GAA: G549R

PubMed Link: 34885805

Variant Present in the following documents:

• Main text
• molecules-26-07223.pdf

View BVdb publication page

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: GAA: G549R

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

Orphanet Journal Of Rare Diseases

van Capelle, C I CI; van der Meijden, J C JC; van den Hout, J M P JM; Jaeken, J J; Baethmann, M M; Voit, T T; Kroos, M A MA; Derks, T G J TG; Rubio-Gozalbo, M E ME; Willemsen, M A MA; Lachmann, R H RH; Mengel, E E; Michelakakis, H H; de Jongste, J C JC; Reuser, A J J AJ; van der Ploeg, A T AT

Publication Date: 2016-05-18

Variant appearance in text: GAA: 1645G>A

PubMed Link: 27189384

Variant Present in the following documents:

• Main text
• 13023_2016_Article_442.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GAA: G549R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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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.

Plos One

Khanna, Richie R; Powe, Allan C AC; Lun, Yi Y; Soska, Rebecca R; Feng, Jessie J; Dhulipala, Rohini R; Frascella, Michelle M; Garcia, Anadina A; Pellegrino, Lee J LJ; Xu, Su S; Brignol, Nastry N; Toth, Matthew J MJ; Do, Hung V HV; Lockhart, David J DJ; Wustman, Brandon A BA; Valenzano, Kenneth J KJ

Publication Date: 2014

Variant appearance in text: GAA: G549R

PubMed Link: 25036864

Variant Present in the following documents:

• Main text
• pone.0102092.pdf

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Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Porto, Caterina C; Ferrara, Maria C MC; Meli, Massimiliano M; Acampora, Emma E; Avolio, Valeria V; Rosa, Margherita M; Cobucci-Ponzano, Beatrice B; Colombo, Giorgio G; Moracci, Marco M; Andria, Generoso G; Parenti, Giancarlo G

Publication Date: 2012-12

Variant appearance in text: GAA: G549R

PubMed Link: 22990675

Variant Present in the following documents:

• Main text

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Molecular genetics of late onset glycogen storage disease II in Italy.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Pittis, M G MG; Filocamo, M M

Publication Date: 2007-07

Variant appearance in text: GAA: 1645G>A; G549R

PubMed Link: 17915575

Variant Present in the following documents:

• Main text

View BVdb publication page

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