News

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.

Benucci S, Ruiz A, Franchini M, Ruggiero L, Zoppi D, Sitsapesan R, Lindsay C, Pelczar P, Pietrangelo L, Protasi F, Treves S, Zorzato F. J Gen Physiol. 2024 Apr...

01 aprile 2024


A solid beta-sheet structure is formed at the surface of FUS droplets during aging.

Emmanouilidis L, Bartalucci E, Kan Y, Ijavi M, Pérez ME, Afanasyev P, Boehringer D, Zehnder J, Parekh SH, Bonn M, Michaels TCT, Wiegand T, Allain FH. Nat Chem Biol....

12 marzo 2024


Cervical and thoracic spinal cord gray matter atrophy is associated with disability in patients with amyotrophic lateral sclerosis.

Wendebourg MJ, Weigel M, Weidensteiner C, Sander L, Kesenheimer E, Naumann N, Haas T, Madoerin P, Braun N, Neuwirth C, Weber M, Jahn K, Kappos L, Granziera C, Schweikert...

11 marzo 2024


SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.

Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, et al. Nat Commun. 2024 Feb 27;15(1):1758.

27 febbraio 2024


A model of human neural networks reveals NPTX2 pathology in ALS and FTLD.

Hruska-Plochan M, Wiersma VI, Betz KM, Mallona I, Ronchi S, Maniecka Z, Hock EM, Tantardini E, Laferriere F, Sahadevan S, Hoop V, Delvendahl I, Pérez-Berlanga M, Gatta...

14 febbraio 2024


Direct reprogramming of non-limb fibroblasts to cells with properties of limb progenitors.

Atsuta Y, Lee C, Rodrigues AR, Colle C, Tomizawa RR, Lujan EG, Tschopp P, Galan L, Zhu M, Gorham JM, Vannier JP, Seidman CE, Seidman JG, Ros MA, Pourquié O, Tabin...

05 febbraio 2024


Autoreactive T cells target peripheral nerves in Guillain-Barré syndrome.

Súkeníková L, Mallone A, Schreiner B, Ripellino P, Nilsson J, Stoffel M, Ulbrich SE, Sallusto F, Latorre D. Nature. 2024 Jan 17. doi: 10.1038/s41586-023-06916-6.

17 gennaio 2024


Native collagen VI delays muscle stem cell early differentiation.

Metti S, Ros FD, Toniato G, Cescon M, Bonaldo P. J Cell Sci. 2024 Jan 15:jcs.261419.

15 gennaio 2024


The ER stress sensor IRE1 interacts with STIM1 to promote store-operated calcium entry, T cell activation, and muscular differentiation.

Carreras-Sureda A, Zhang X, Laubry L, Brunetti J, Koenig S, Wang X, Castelbou C, Hetz C, Liu Y, Frieden M, Demaurex N. Cell Rep. 2023 Dec 26;42(12):113540.

26 dicembre 2023


Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.

Vicino A, Bello L, Bonanno S, Govoni A, Cerri F, Ferraro M, Capece G, Gadaleta G, Meneri M, Vacchiano V, Ricci G, D'Errico E, Tramacere I, Banfi P, Bortolani S, Zanin R,...

22 dicembre 2023