Aggresome-autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene

Frontiers in Aging Neuroscience

Volumn 6, Issue AUG, 2014, Pages

  Sabatelli, Patrizia ^a,b   Castagnaro, Silvia ^c   Tagliavini, Francesca ^a,b   Chrisam, Martina ^c   Sardone, Francesca ^a,b   Demay, Laurence ^d   Richard, Pascale ^d   Santi, Spartaco ^a,b   Maraldi, Nadir M ^a   Merlini, Luciano ^b   Sandri, Marco ^c,e   Bonaldo, Paolo ^c  

^a CNR   (Italy)

^b RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e VENETIAN INSTITUTE OF MOLECULAR MEDICINE   (Italy)

Author keywords

autophagy; FHL1; Myopathy; protein aggregates; sarcopenia

Indexed keywords

ALPHA CRYSTALLIN; BETA CRYSTALLIN; COLLAGEN TYPE 6; DESMIN; FOUR AND HALF LIM DOMAIN PROTEIN 1; GLUCOSE REGULATED PROTEIN 78; LIM PROTEIN; PROTEIN P62; UBIQUITIN; UNCLASSIFIED DRUG;

ADULT; AGGRESOME; AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL VENTILATION; AUTOPHAGY; BODY COMPOSITION; BODY FAT; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONTRACTURE; CYTOPLASM; ENDOMYSIUM; EXON; FAT MASS; FEMALE; FORCED VITAL CAPACITY; HUMAN; JOINT LIMITATION; LEAN BODY WEIGHT; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE MASS; MUSCLE RIGIDITY; NUCLEAR LAMINA; PERIMYSIUM; PHENOTYPE; PROTEIN AGGREGATION; RESPIRATORY FAILURE; RIGID SPINE SYNDROME; SARCOPENIA; SARCOPLASMIC RETICULUM; SPINE DISEASE; TRACHEOSTOMY; UNDERWEIGHT; UPREGULATION;

EID: 84906266592     PISSN: None     EISSN: 16634365     Source Type: Journal    
DOI: 10.3389/fnagi.2014.00215     Document Type: Article

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