Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro [PDF]
Pharmaceutics, 2023 Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a relentlessly progressive neurodegenerative disorder caused by mutations in the C19orf12 gene.
Miriam Gura +2 more
exaly +4 more sources
A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone [PDF]
BMC Neurology, 2023 Background Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare and devastating disease caused by pathogenic mutations in C19orf12 gene. MPAN is characterized by pathological iron accumulation in the brain and fewer than 100 cases
Sihui Chen, Xiaohui Lai, Jiajia Fu
exaly +3 more sources
Multi-phase attention network for face super-resolution. [PDF]
PLoS ONE, 2023 Previous general super-resolution methods do not perform well in restoring the details structure information of face images. Prior and attribute-based face super-resolution methods have improved performance with extra trained results.
Tao Hu, Yunzhi Chen
doaj +2 more sources
Distinct Neurodegenerative Pathways in Two NBIA Subtypes: Inflammatory Activation in C19orf12 but Not in PANK2 Mutation Carriers [PDF]
CellsBackground: Biomarker analysis in neurodegeneration with brain iron accumulation (NBIA) can offer valuable insights into the disease’s pathology and natural history.
Marta Skowrońska +11 more
doaj +2 more sources
Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein–Associated Neurodegeneration [PDF]
Frontiers in Genetics, 2022 Background: Mitochondrial membrane protein–associated neurodegeneration (MPAN) mostly arises as an autosomal recessive disease and is caused by variants in the chromosome 19 open reading frame 12 (C19orf12) gene.
Yue Yang +10 more
doaj +2 more sources
A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12.
Stuart Fraser +4 more
doaj +2 more sources
Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)
Molecular Genetics & Genomic Medicine, 2019 Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is caused by pathogenic sequence variants in C19orf12. Autosomal recessive inheritance has been demonstrated.
Allison Gregory +2 more
exaly +2 more sources
IEEE Access, 2021 Over the past few years, much work has been done to develop machine learning models that perform Arabic sentiment analysis (ASA) tasks at various levels and in different domains. However, most of this work has been based on shallow machine learning, with
Mohammed Elaffendi, Amir Hussain
exaly +3 more sources
Loss of mouse C19orf12 homolog disturbs tubular ER homeostasis and leads to neuroaxonal dystrophy [PDF]
Acta Neuropathologica CommunicationsNeurodegeneration with brain iron accumulation (NBIA) is a group of rare diseases associated with genetic mutations in several genes including C19orf12.
Fengqin Wu +7 more
doaj +2 more sources
Expanded‐access use of elamipretide in a patient with membrane protein‐associated neurodegeneration [PDF]
Clinical Case ReportsKey Clinical Message This case report presents a progressively declining 17‐year‐old patient with membrane protein‐associated neurodegeneration who demonstrated symptomatic improvements in her dysarthria, dysphagia, and gait, and objective improvements ...
Jorge Patino +3 more
doaj +2 more sources