Publications:

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Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.

Elife

Eckhardt, Jan J; Ruiz, Alexis A; Koenig, Stéphane S; Frieden, Maud M; Meier, Hervé H; Schmidt, Alexander A; Treves, Susan S; Zorzato, Francesco F

Publication Date: 2023-03-02

Variant appearance in text: RYR1: A4329D

PubMed Link: 36862731

Variant Present in the following documents:

• Main text
• elife-83618.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: RYR1: 12986C>A; Ala4329Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.

The Journal Of General Physiology

Rossi, Daniela D; Catallo, Maria Rosaria MR; Pierantozzi, Enrico E; Sorrentino, Vincenzo V

Publication Date: 2022-09-05

Variant appearance in text: RYR1: A4329D

PubMed Link: 35980353

Variant Present in the following documents:

• Main text
• JGP_202213115.pdf

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Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.

Skeletal Muscle

Lawal, Tokunbor A TA; Todd, Joshua J JJ; Witherspoon, Jessica W JW; Bönnemann, Carsten G CG; Dowling, James J JJ; Hamilton, Susan L SL; Meilleur, Katherine G KG; Dirksen, Robert T RT

Publication Date: 2020-11-16

Variant appearance in text: RYR1: A4329D

PubMed Link: 33190635

Variant Present in the following documents:

• 13395_2020_Article_243.pdf

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In vivo RyR1 reduction in muscle triggers a core-like myopathy.

Acta Neuropathologica Communications

Pelletier, Laurent L; Petiot, Anne A; Brocard, Julie J; Giannesini, Benoit B; Giovannini, Diane D; Sanchez, Colline C; Travard, Lauriane L; Chivet, Mathilde M; Beaufils, Mathilde M; Kutchukian, Candice C; Bendahan, David D; Metzger, Daniel D; Franzini Armstrong, Clara C; Romero, Norma B NB; Rendu, John J; Jacquemond, Vincent V; Fauré, Julien J; Marty, Isabelle I

Publication Date: 2020-11-11

Variant appearance in text: RYR1: A4329D

PubMed Link: 33176865

Variant Present in the following documents:

• Main text

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The Contractile Phenotype of Skeletal Muscle in TRPV1 Knockout Mice is Gender-Specific and Exercise-Dependent.

Life (Basel, Switzerland)

Lafoux, Aude A; Lotteau, Sabine S; Huchet, Corinne C; Ducreux, Sylvie S

Publication Date: 2020-10-06

Variant appearance in text: RYR1: A4329D

PubMed Link: 33036239

Variant Present in the following documents:

• life-10-00233.pdf

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Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice.

The Journal Of Biological Chemistry

Elbaz, Moran M; Ruiz, Alexis A; Nicolay, Sven S; Tupini, Chiara C; Bachmann, Christoph C; Eckhardt, Jan J; Benucci, Sofia S; Pelczar, Pawel P; Treves, Susan S; Zorzato, Francesco F

Publication Date: 2020-07-24

Variant appearance in text: RYR1: A4329D

PubMed Link: 32499372

Variant Present in the following documents:

• Main text

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Cored in the act: the use of models to understand core myopathies.

Disease Models & Mechanisms

Fusto, Aurora A; Moyle, Louise A LA; Gilbert, Penney M PM; Pegoraro, Elena E

Publication Date: 2019-12-19

Variant appearance in text: RYR1: A4329D

PubMed Link: 31874912

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet Journal Of Rare Diseases

Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ

Publication Date: 2013-08-06

Variant appearance in text: RYR1: 12986C>A; A4329D

PubMed Link: 23919265

Variant Present in the following documents:

• 1750-1172-8-117-S1.xlsx, sheet 1

View BVdb publication page

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