Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family.
Peng Y, Pan M, Wang Y, Shen Z, Xu J, Xiong F, Xiao H, Miao Y., Free PMC Article

D313Y variant in two related end-stage renal disease patients - Pathogenic or not yet?
Vicente R, Santos I, Coimbra M, Santos J, Santos R, Amoedo M, Pires C.

GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease.
Li P, Xi Y, Zhang Y, Samad A, Lan W, Wu Y, Zhao J, Chen G, Wu C, Xiong Q., Free PMC Article

Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
Romani I, Sarti C, Nencini P, Pracucci G, Zedde M, Cianci V, Nucera A, Moller J, Orsucci D, Toni D, Palumbo P, Casella C, Pinto V, Barbarini L, Bella R, Scoditti U, Ragno M, Mezzapesa DM, Tassi R, Volpi G, Diomedi M, Bigliardi G, Cavallini AM, Chiti A, Ricci S, Cecconi E, Linoli G, Sacco S, Rasura M, Giordano A, Bonetti B, Melis M, Cariddi LP, Dossi RC, Grisendi I, Aguglia U, Di Ruzza MR, Melis M, Sbardella E, Vista M, Valenti R, Musolino RF, Passarella B, Direnzo V, Pennisi G, Genovese A, Di Marzio F, Sgobio R, Acampa M, Nannucci S, Dagostino F, Dell'Acqua ML, Cuzzoni MG, Picchioni A, Calchetti B, Notturno F, Di Lisi F, Forlivesi S, Delodovici ML, Buechner SC, Biagini S, Accavone D, Manna R, Morrone A, Inzitari D.

Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Monda E, Diana G, Graziani F, Rubino M, Bakalakos A, Linhart A, Germain DP, Scarpa M, Biagini E, Pieroni M, Elliott PM, Limongelli G.

c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.
Riillo C, Bonapace G, Moricca MT, Sestito S, Salatino A, Concolino D.

Asn215Ser, Ala143Thr, and Arg112Cys variants in α-galactosidase A protein confer stability loss in Fabry's disease.
Sudhan M, Janakiraman V, Patil R, Oyouni AAA, Hasan Mufti A, Ahmed SSSJ.

Enzymatic properties and clinical associations of serum alpha-galactosidase A in Parkinson's disease.
Mizutani Y, Nawashiro K, Ohdake R, Tatebe H, Shima S, Ueda A, Yoshimoto J, Ito M, Tokuda T, Mutoh T, Watanabe H., Free PMC Article

Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.
Cianci V, Pascarella A, Manzo L, Gasparini S, Marsico O, Mammì A, Rao CM, Franzutti C, Aguglia U, Ferlazzo E., Free PMC Article

All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E, Horinouchi T, Yamamura T, Aoto Y, Suzuki R, Ichikawa Y, Tanaka Y, Masuda C, Kitakado H, Kondo A, Sakakibara N, Ishiko S, Nagano C, Ishimori S, Usui J, Yamagata K, Matsuo M, Nozu K., Free PMC Article

Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation.
Valtola K, Hedman M, Kantola I, Walls S, Helisalmi S, Maria M, Raivo J, Auray-Blais C, Kuusisto J., Free PMC Article

D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.
Palaiodimou L, Stefanou MI, Bakola E, Papadopoulou M, Kokotis P, Vrettou AR, Kapsia E, Petras D, Anastasakis A, Xifaras N, Karachaliou E, Touloumi G, Vlachopoulos C, Boletis IN, Giannopoulos S, Tsivgoulis G, Zompola C.

Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?
Nóbrega PR, Morais JLA, Ferreira AM, de Medeiros AD, Duarte BA, Rangel DM, Lima FO, de Paiva ARB, Paim-Marques L, Kok F, Pessoa ALS, Braga-Neto P, Carvalho FMM.

A theoretical study on binding and stabilization of galactose and novel galactose analogues to the human α-galactosidase A variant causing Fabry disease.
Klaewkla M, Prousoontorn J, Charoenwongpaiboon T.

Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
Delarosa-Rodríguez R, Santotoribio JD, Paula HA, González-Meneses A, García-Morillo S, Jiménez-Arriscado P, Guerrero JM, Macher HC.

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing.
Nowak A, Murik O, Mann T, Zeevi DA, Altarescu G., Free PMC Article

Nationwide screening for Fabry disease in unselected stroke patients.
Tomek A, Petra R, Paulasová Schwabová J, Olšerová A, Škorňa M, Nevšímalová M, Šimůnek L, Herzig R, Fafejtová Š, Mikulenka P, Táboříková A, Neumann J, Brzezny R, Sobolová H, Bartoník J, Václavík D, Vachová M, Bechyně K, Havlíková H, Prax T, Šaňák D, Černíková I, Ondečková I, Procházka P, Rajner J, Škoda M, Novák J, Škoda O, Bar M, Mikulík R, Dostálová G, Linhart A, National Stroke Research Network, part of Czech Clinical Research Infrastructure Network (CZECRIN) and Czech Neurological Society, Cerebrovascular Section., Free PMC Article

α-Galactosidase a Deficiency in Fabry Disease Leads to Extensive Dysregulated Cellular Signaling Pathways in Human Podocytes.
Jehn U, Bayraktar S, Pollmann S, Van Marck V, Weide T, Pavenstädt H, Brand E, Lenders M., Free PMC Article

Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Maruyama H, Taguchi A, Mikame M, Izawa A, Morito N, Izaki K, Seto T, Onishi A, Sugiyama H, Sakai N, Yamabe K, Yokoyama Y, Yamashita S, Satoh H, Toyoda S, Hosojima M, Ito Y, Tazawa R, Ishii S., Free PMC Article

DNA methylation impact on Fabry disease.
Di Risi T, Vinciguerra R, Cuomo M, Della Monica R, Riccio E, Cocozza S, Imbriaco M, Duro G, Pisani A, Chiariotti L., Free PMC Article

Is the alpha-galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review.
Effraimidis G, Rasmussen ÅK, Bundgaard H, Sørensen SS, Feldt-Rasmussen U.

High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health.
Sarosiak A, Oziębło D, Udziela M, Vermeer C, Malejczyk J, Szaflik JP, Ołdak M.

Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y.
von Cossel K, Muschol N, Friedrich RE, Glatzel M, Ammer L, Lohmöller B, Bendszus M, Mautner VF, Godel T.

Circulating phylloquinone, inactive Matrix Gla protein and coronary heart disease risk: A two-sample Mendelian Randomization study.
Zwakenberg SR, Burgess S, Sluijs I, Weiderpass E, EPIC-CVD consortium, Beulens JWJ, van der Schouw YT., Free PMC Article

Detailed epitope mapping of neutralizing anti-drug antibodies against recombinant α-galactosidase A in patients with Fabry disease.
Scharnetzki D, Stappers F, Lenders M, Brand E.