Di Blasi C, Moghadaszadeh B, Ciano C, Negri T, Giavazzi A, Cornelio F, Morandi L, Mora M (2004) Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy. Ann Neurol 56(1):133–138. https://doi.org/10.1002/ana.20158
Article CAS PubMed Google Scholar
Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C, Gibertini S, Barton K, Vorgerd M, Marcus K, Wang P, Maggi L, Mantegazza R, Dowling JJ, Kley RA, Mora M, Minassian BA (2020) Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease. Acta Neuropathol 140(2):231–235. https://doi.org/10.1007/s00401-020-02164-4
Article CAS PubMed PubMed Central Google Scholar
Bosma M (2016) Lipid droplet dynamics in skeletal muscle. Exp Cell Res 340(2):180–186. https://doi.org/10.1016/j.yexcr.2015.10.023
Article CAS PubMed Google Scholar
Sztalryd C, Brasaemle DL (2017) The perilipin family of lipid droplet proteins: gatekeepers of intracellular lipolysis. Biochim Biophys Acta 1862(10 Pt B):1221–1232. https://doi.org/10.1016/j.bbalip.2017.07.009
Article CAS PubMed Central Google Scholar
Pourteymour S, Lee S, Langleite TM, Eckardt K, Hjorth M, Bindesbøll C, Dalen KT, Birkeland KI, Drevon CA, Holen T, Norheim F (2015) Perilipin 4 in human skeletal muscle: localization and effect of physical activity. Physiol Rep 3(8):e12481. https://doi.org/10.14814/phy2.12481
Article CAS PubMed PubMed Central Google Scholar
Čopič A, Antoine-Bally S, Giménez-Andrés M, La Torre Garay C, Antonny B, Manni MM, Pagnotta S, Guihot J, Jackson CL (2018) A giant amphipathic helix from a perilipin that is adapted for coating lipid droplets. Nat Commun 9(1):1332. https://doi.org/10.1038/s41467-018-03717-8
Article CAS PubMed PubMed Central Google Scholar
Pankiv S, Clausen TH, Lamark T, Brech A, Bruun JA, Outzen H, Øvervatn A, Bjørkøy G, Johansen T (2007) p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy. J Biol Chem 282(33):24131–24145. https://doi.org/10.1074/jbc.M702824200
Article CAS PubMed Google Scholar
Kirkin V, Lamark T, Sou YS, Bjørkøy G, Nunn JL, Bruun JA, Shvets E, McEwan DG, Clausen TH, Wild P, Bilusic I, Theurillat JP, Øvervatn A, Ishii T, Elazar Z, Komatsu M, Dikic I, Johansen T (2009) A role for NBR1 in autophagosomal degradation of ubiquitinated substrates. Mol Cell 33(4):505–516. https://doi.org/10.1016/j.molcel.2009.01.020
Isakson P, Holland P, Simonsen A (2013) The role of ALFY in selective autophagy. Cell Death Differ 20(1):12–20. https://doi.org/10.1038/cdd.2012.66
Article CAS PubMed Google Scholar
Angelini C, Semplicini C, Ravaglia S, Moggio M, Comi GP, Musumeci O, Pegoraro E, Tonin P, Filosto M, Servidei S, Morandi L, Crescimanno G, Marrosu G, Siciliano G, Mongini T, Toscano A, Italian Group on GSDII (2012) New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy. Muscle Nerve 45(6):831–834. https://doi.org/10.1002/mus.23340
Amato AA, Barohn RJ (2009) Evaluation and treatment of inflammatory myopathies. J Neurol Neurosurg Psychiatry 80(10):1060–1068. https://doi.org/10.1136/jnnp.2008.169375
Article CAS PubMed Google Scholar
Peric S, Maksimovic R, Banko B, Durdic M, Bjelica B, Bozovic I, Balcik Y, Pesovic J, Savic-Pavicevic D, Rakocevic-Stojanovic V (2017) Magnetic resonance imaging of leg muscles in patients with myotonic dystrophies. J Neurol 264(9):1899–1908. https://doi.org/10.1007/s00415-017-8574-0
Article CAS PubMed Google Scholar
Yang K, Zeng YH, Qiu YS, Lin F, Chen HZ, Jin M, Chen L, Zheng FZ, Ding YL, Cao CY, Lin MT, Chen WJ, Wang ZQ, Wang N (2022) Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation. Acta Neuropathol 143(6):733–735. https://doi.org/10.1007/s00401-022-02422-7
Article CAS PubMed Google Scholar
Wang Q, Yu M, Zhang W, Gang Q, Xie Z, Xu J, Zhou C, Wang D, Meng L, Lv H, Jia Z, Deng J, Yuan Y, Wang Z (2022) Subsarcolemmal and cytoplasmic p62 positivity and rimmed vacuoles are distinctive for PLIN4-myopathy. Ann Clin Transl Neurol 9(11):1813–1819. https://doi.org/10.1002/acn3.51666
Article CAS PubMed PubMed Central Google Scholar
Bugiardini E, Morrow JM, Shah S, Wood CL, Lynch DS, Pitmann AM, Reilly MM, Houlden H, Matthews E, Parton M, Hanna MG, Straub V, Yousry TA (2018) The diagnostic value of MRI pattern recognition in distal myopathies. Front Neurol 9:456. https://doi.org/10.3389/fneur.2018.00456
留言 (0)