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A new patient‐derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α‐dystroglycan.
Published in:
EMBO Reports, 2019, v. 20, n. 11, p. N.PAG, doi. 10.15252/embr.201947967
By:
- Kim, Jihee;
- Lana, Beatrice;
- Torelli, Silvia;
- Ryan, David;
- Catapano, Francesco;
- Ala, Pierpaolo;
- Luft, Christin;
- Stevens, Elizabeth;
- Konstantinidis, Evangelos;
- Louzada, Sandra;
- Fu, Beiyuan;
- Paredes‐Redondo, Amaia;
- Chan, AW Edith;
- Yang, Fengtang;
- Stemple, Derek L;
- Liu, Pentao;
- Ketteler, Robin;
- Selwood, David L;
- Muntoni, Francesco;
- Lin, Yung‐Yao
Publication type:
Article
MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro: protocols and their applications.
Published in:
Frontiers in Physiology, 2023, p. 1, doi. 10.3389/fphys.2023.1145047
By:
- Rossi, Rachele;
- Torelli, Silvia;
- Ala, Pierpaolo;
- Weston, William;
- Morgan, Jennifer;
- Malhotra, Jyoti;
- Muntoni, Francesco
Publication type:
Article
TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain.
Published in:
Neuropathology & Applied Neurobiology, 2022, v. 48, n. 2, p. 1, doi. 10.1111/nan.12771
By:
- Munot, Pinki;
- McCrea, Nadine;
- Torelli, Silvia;
- Manzur, Adnan;
- Sewry, Caroline;
- Chambers, Darren;
- Feng, Lucy;
- Ala, Pierpaolo;
- Zaharieva, Irina;
- Ragge, Nicola;
- Roper, Helen;
- Marton, Tamas;
- Cox, Phil;
- Milev, Miroslav P.;
- Liang, Wen‐Chen;
- Maruyama, Shinsuke;
- Nishino, Ichizo;
- Sacher, Michael;
- Phadke, Rahul;
- Muntoni, Francesco
Publication type:
Article
The UCMD-Causing COL6A1 (c.930+189C>T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains.
Published in:
Human Mutation, 2023, p. 1, doi. 10.1155/2023/6892763
By:
- Freiburg, Carolin D.;
- Solomon-Degefa, Herimela;
- Freiburg, Patrick;
- Mörgelin, Matthias;
- Bolduc, Véronique;
- Schmitz, Sebastian;
- Ala, Pierpaolo;
- Muntoni, Francesco;
- Behrmann, Elmar;
- Bönnemann, Carsten G.;
- Schiavinato, Alvise;
- Paulsson, Mats;
- Wagener, Raimund
Publication type:
Article
mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-43134-6
By:
- Falzarano, Maria Sofia;
- Mietto, Martina;
- Fortunato, Fernanda;
- Farnè, Marianna;
- Martini, Fernanda;
- Ala, Pierpaolo;
- Selvatici, Rita;
- Muntoni, Francesco;
- Ferlini, Alessandra
Publication type:
Article

Found: 5

A new patient‐derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α‐dystroglycan.

MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro: protocols and their applications.

TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain.

The UCMD-Causing COL6A1 (c.930+189C>T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains.

mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies.