Publications:

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Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.

International Journal Of Molecular Sciences

Iacobucci, Ilaria I; Hay Mele, Bruno B; Cozzolino, Flora F; Monaco, Vittoria V; Cimmaruta, Chiara C; Monti, Maria M; Andreotti, Giuseppina G; Monticelli, Maria M

Publication Date: 2023-02-25

Variant appearance in text: GLA: S65T

PubMed Link: 36901983

Variant Present in the following documents:

• ijms-24-04548.pdf

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Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

International Journal Of Molecular Sciences

Alfen, Franziska F; Putscher, Elena E; Hecker, Michael M; Zettl, Uwe Klaus UK; Hermann, Andreas A; Lukas, Jan J

Publication Date: 2022-12-03

Variant appearance in text: GLA: 194G>C

PubMed Link: 36499585

Variant Present in the following documents:

• Main text
• ijms-23-15261.pdf

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Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones.

International Journal Of Molecular Sciences

Monticelli, Maria M; Liguori, Ludovica L; Allocca, Mariateresa M; Bosso, Andrea A; Andreotti, Giuseppina G; Lukas, Jan J; Monti, Maria Chiara MC; Morretta, Elva E; Cubellis, Maria Vittoria MV; Hay Mele, Bruno B

Publication Date: 2022-05-04

Variant appearance in text: GLA: S65T

PubMed Link: 35563496

Variant Present in the following documents:

• ijms-23-05105.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: GLA: 194G>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: S65T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.

Bmc Bioinformatics

Cimmaruta, Chiara C; Citro, Valentina V; Andreotti, Giuseppina G; Liguori, Ludovica L; Cubellis, Maria Vittoria MV; Hay Mele, Bruno B

Publication Date: 2018-11-30

Variant appearance in text: GLA: S65T

PubMed Link: 30497360

Variant Present in the following documents:

• 12859_2018_Article_2416.pdf

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The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

International Journal Of Molecular Sciences

Citro, Valentina V; Cammisa, Marco M; Liguori, Ludovica L; Cimmaruta, Chiara C; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G

Publication Date: 2016-12-01

Variant appearance in text: GLA: S65T

PubMed Link: 27916943

Variant Present in the following documents:

• ijms-17-02010.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: GLA: S65T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).

Orphanet Journal Of Rare Diseases

Hsu, Ting-Rong TR; Sung, Shih-Hsien SH; Chang, Fu-Pang FP; Yang, Chia-Feng CF; Liu, Hao-Chuan HC; Lin, Hsiang-Yu HY; Huang, Chun-Kai CK; Gao, He-Jin HJ; Huang, Yu-Hsiu YH; Liao, Hsuan-Chieh HC; Lee, Pi-Chang PC; Yang, An-Hang AH; Chiang, Chuan-Chi CC; Lin, Ching-Yuang CY; Yu, Wen-Chung WC; Niu, Dau-Ming DM

Publication Date: 2014-07-01

Variant appearance in text: GLA: S65T

PubMed Link: 24980630

Variant Present in the following documents:

• 1750-1172-9-96.pdf

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Analysis of lyso-globotriaosylsphingosine in dried blood spots.

Annals Of Laboratory Medicine

Johnson, Britt B; Mascher, Hermann H; Mascher, Daniel D; Legnini, Elisa E; Hung, Christina Y CY; Dajnoki, Angela A; Chien, Yin-Hsiu YH; Maródi, László L; Hwu, Wuh-Liang WL; Bodamer, Olaf A OA

Publication Date: 2013-07

Variant appearance in text: GLA: S65T

PubMed Link: 23826564

Variant Present in the following documents:

• alm-33-274.pdf

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Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.

Orphanet Journal Of Rare Diseases

Andreotti, Giuseppina G; Citro, Valentina V; De Crescenzo, Agostina A; Orlando, Pierangelo P; Cammisa, Marco M; Correra, Antonella A; Cubellis, Maria Vittoria MV

Publication Date: 2011-10-17

Variant appearance in text: GLA: 194G>C; S65T

PubMed Link: 22004918

Variant Present in the following documents:

• 1750-1172-6-66.pdf

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Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.

Journal Of Inherited Metabolic Disease

Gal, Andreas A; Hughes, Derralynn A DA; Winchester, Bryan B

Publication Date: 2011-04

Variant appearance in text: GLA: Ser65Thr

PubMed Link: 21229318

Variant Present in the following documents:

• Main text

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Fabry disease - current treatment and new drug development.

Current Chemical Genomics

Motabar, Omid O; Sidransky, Ellen E; Goldin, Ehud E; Zheng, Wei W

Publication Date: 2010-07-23

Variant appearance in text: GLA: S65T

PubMed Link: 21127742

Variant Present in the following documents:

• TOCHGENJ-4-50.pdf

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