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Inhibition of methionine aminopeptidase in C2C12 myoblasts disrupts cell integrity via increasing endoplasmic reticulum stress.
Biochim Biophys Acta Mol Cell Res
January 2025
Designing Future Health Initiative, Center for Promotion of Innovation Strategy, Head Office of Enterprise Partnerships, Tohoku University, Miyagi 980-8579, Japan.
Proteasome-dependent protein degradation and the digestion of peptides by aminopeptidases are essential for myogenesis. Methionine aminopeptidases (MetAPs) are uniquely involved in, both, the proteasomal degradation of proteins and in the regulation of translation (via involvement in post-translational modification). Suppressing MetAP1 and MetAP2 expression inhibits the myogenic differentiation of C2C12 myoblasts.
View Article and Find Full Text PDFChild Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
View Article and Find Full Text PDFAudiovisual analysis of the diagnostic video polysomnography in patients with isolated REM sleep behavior disorder.
J Neurol
January 2025
Sleep Unit, Neurology Service, Hospital Clínic Barcelona, IDIBAPS, CIBERNED, Universitat de Barcelona, Villarroel 170, 08036, Barcelona, Spain.
Background: The diagnosis of isolated REM sleep behavior disorder (IRBD) requires video polysomnography (V-PSG) showing increased muscle activity and abnormal behaviors in REM sleep.
Objective: To describe in IRBD the behavioral manifestations occurring during REM sleep in the diagnostic V-PSG.
Methods: This is a systematic audiovisual V-PSG analysis of consecutive IRBD patients.
Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants.
J Neurol
January 2025
Department of Neurology, School of Medical Sciences, University of Campinas-UNICAMP, Universitaria "Zeferino Vaz", Rua Tessália Vieira de Camargo, 126. Cidade, Campinas, SP, 13083-887, Brazil.
Background: Skeletal and cardiac muscle damage have been increasingly recognized in female carriers of DMD pathogenic variants (DMDc). Little is known about cognitive impairment in these women or whether they have structural brain damage.
Objective: To characterize the cognitive profile in a Brazilian cohort of DMDc and determine whether they have structural brain abnormalities using multimodal MRI.
[Chronic back pain-pharmacological and nonpharmacological treatment approaches].
Inn Med (Heidelb)
January 2025
Klinik und Poliklinik für Orthopädie, Unfallchirurgie und Plastisch-Ästhetische Chirurgie, Universitätsklinikum Köln (AöR), Kerpener Straße 62, 50937, Köln, Deutschland.
Chronic back pain is a global health problem with significant impacts on physical and mental health, work ability, and quality of life. Back pain has an increased risk of becoming chronic, especially in patients with other chronic conditions. Treatment primarily focuses on nonpharmacological approaches.
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