Publications:

Genome scale analysis of pathogenic variants targetable for single base editing.

Bmc Medical Genomics

Lavrov, Alexander V AV; Varenikov, Georgi G GG; Skoblov, Mikhail Yu MY

Publication Date: 2020-09-18

Variant appearance in text: GAA: 563A>G

PubMed Link: 32948190

Variant Present in the following documents:

• 12920_2020_735_MOESM1_ESM.xlsx, sheet 1

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Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.

Frontiers In Pharmacology

Mohamed, Fedah E FE; Al-Gazali, Lihadh L; Al-Jasmi, Fatma F; Ali, Bassam R BR

Publication Date: 2017

Variant appearance in text: GAA: N188S

PubMed Link: 28736525

Variant Present in the following documents:

• Main text
• fphar-08-00448.pdf

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Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.

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

Parenti, Giancarlo G; Andria, Generoso G; Valenzano, Kenneth J KJ

Publication Date: 2015-07

Variant appearance in text: GAA: N188S

PubMed Link: 25881001

Variant Present in the following documents:

• Main text

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Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases

Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A

Publication Date: 2015-01

Variant appearance in text: GAA: Asn188Ser

PubMed Link: 25568942

Variant Present in the following documents:

• pntd.0003404.s019.xlsx, sheet 1

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Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases.

Metabolic Brain Disease

Jakóbkiewicz-Banecka, Joanna J; Gabig-Cimińska, Magdalena M; Banecka-Majkutewicz, Zyta Z; Banecki, Bogdan B; Węgrzyn, Alicja A; Węgrzyn, Grzegorz G

Publication Date: 2014-03

Variant appearance in text: GAA: N188S

PubMed Link: 24307179

Variant Present in the following documents:

• Main text
• 11011_2013_Article_9455.pdf

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