Publications:

Downregulation of Mannose-6-Phosphate Receptors in Fabry Disease Cardiomyopathy: A Potential Target for Enzyme Therapy Enhancement.

Journal Of Clinical Medicine

Frustaci, Andrea A; Verardo, Romina R; Scialla, Rossella R; Bagnato, Giulia G; Verardo, Margherita M; Alfarano, Maria M; Russo, Matteo A MA

Publication Date: 2022-09-16

Variant appearance in text: GLA: 666delC

PubMed Link: 36143092

Variant Present in the following documents:

• jcm-11-05440.pdf

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Divergent Impact of Enzyme Replacement Therapy on Human Cardiomyocytes and Enterocytes Affected by Fabry Disease: Correlation with Mannose-6-phosphate Receptor Expression.

Journal Of Clinical Medicine

Frustaci, Andrea A; Najafian, Behzad B; Donato, Giuseppe G; Verardo, Romina R; Chimenti, Cristina C; Sansone, Luigi L; Belli, Manuel M; Vernucci, Enza E; Russo, Matteo Antonio MA

Publication Date: 2022-02-28

Variant appearance in text: GLA: 666delC

PubMed Link: 35268433

Variant Present in the following documents:

• Main text
• jcm-11-01344.pdf

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Hypertrophy of unaffected cardiomyocytes correlates with severity of cardiomyopathy in female patients with Fabry disease.

Orphanet Journal Of Rare Diseases

Chimenti, Cristina C; Verardo, Romina R; Frustaci, Andrea A

Publication Date: 2021-04-10

Variant appearance in text: GLA: 666delC

PubMed Link: 33838691

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1803.pdf

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Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

International Journal Of Molecular Sciences

Duro, Giovanni G; Zizzo, Carmela C; Cammarata, Giuseppe G; Burlina, Alessandro A; Burlina, Alberto A; Polo, Giulia G; Scalia, Simone S; Oliveri, Roberta R; Sciarrino, Serafina S; Francofonte, Daniele D; Alessandro, Riccardo R; Pisani, Antonio A; Palladino, Giuseppe G; Napoletano, Rosa R; Tenuta, Maurizio M; Masarone, Daniele D; Limongelli, Giuseppe G; Riccio, Eleonora E; Frustaci, Andrea A; Chimenti, Cristina C; Ferri, Claudio C; Pieruzzi, Federico F; Pieroni, Maurizio M; Spada, Marco M; Castana, Cinzia C; Caserta, Marina M; Monte, Ines I; Rodolico, Margherita Stefania MS; Feriozzi, Sandro S; Battaglia, Yuri Y; Amico, Luisa L; Losi, Maria Angela MA; Autore, Camillo C; Lombardi, Marco M; Zoccali, Carmine C; Testa, Alessandra A; Postorino, Maurizio M; Mignani, Renzo R; Zachara, Elisabetta E; Giordano, Antonello A; Colomba, Paolo P

Publication Date: 2018-11-23

Variant appearance in text: GLA: 666delC

PubMed Link: 30477121

Variant Present in the following documents:

• Main text
• ijms-19-03726.pdf

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