Results 1 to 10 of about 518 (96)

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, Shijie Zhang, Wenming Yang, Wenming Yang, Taohua Wei, Wenjie Hao, Ting Cheng, Jiuxiang Wang, Wei Dong, Wei Dong, Nannan Qian   +10 more
doaj   +4 more sources

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.
Enrica Zanuttigh, Kevork Derderian, Miriam A. Güra, Arie Geerlof, Ivano Di Meo, Chiara Cavestro, Stefan Hempfling, Stephanie Ortiz-Collazos, Mario Mauthe, Tomasz Kmieć, Eugenia Cammarota, Maria Carla Panzeri, Thomas Klopstock, Michael Sattler, Juliane Winkelmann, Ana C. Messias, Arcangela Iuso   +16 more
doaj   +2 more sources

Loss of mouse C19orf12 homolog disturbs tubular ER homeostasis and leads to neuroaxonal dystrophy [PDF]

Acta Neuropathologica Communications
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare diseases associated with genetic mutations in several genes including C19orf12.
Fengqin Wu, Sandra L. Siedlak, Sabina Bhatta, Samia Khaled, Changjuan Shao, Sandy Torres, Hisashi Fujioka, Wenzhang Wang   +7 more
doaj   +2 more sources

Patient-Derived Neurons Exhibit α-Synuclein Pathology and Previously Unrecognized Major Histocompatibility Complex Class I Elevation in Mitochondrial Membrane Protein-Associated Neurodegeneration. [PDF]

Mov Disord
Abstract Background Mitochondrial membrane protein–associated neurodegeneration (MPAN) from the neurodegeneration with brain iron accumulation (NBIA) family is a rare neurodegenerative disease marked by α‐synuclein aggregation, brain iron accumulation, and midbrain dopaminergic neuron degeneration.
Heger LM, Kertess L, Kaufhold C, Gubinelli F, Cardona-Alberich A, Özata G, Müller SA, Tschirner SK, Stehling O, Schifferer M, Peron C, Tiranti V, Lill R, Iuso A, Zecca L, Strupp M, Oertel W, Lichtenthaler SF, Burbulla LF.   +18 more
europepmc   +2 more sources

Biallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation. [PDF]

Mov Disord
Abstract Background Complex lipid metabolism is one of the main biological pathways disrupted in neurodegeneration with brain iron accumulation (NBIA). SLC27A3 gene encodes for the very long‐chain acyl‐CoA synthetase 3, an acyl‐CoA ligase that activates long and very long‐chain fatty acids.
Travaglini L, Jeon C, Rizza T, Novelli A, Specchio N, Piluso A, Bertini E, Iuso A, Garone G.   +8 more
europepmc   +2 more sources

Bioinformatics analysis and qRT-PCR validation of iron metabolism-related genes in pediatric asthma. [PDF]

PLoS ONE
Pediatric asthma (PA) is a chronic airway disease with a complex etiology, and iron metabolism disorder is believed to be involved in its pathogenesis.
Liang Liu, Yingying Sun, Yu Wang, Xiaofei Xie, Lina Wei   +4 more
doaj   +2 more sources

An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research [PDF]

Brain Sciences
Mitochondrial Membrane Protein-Associated Neurodegeneration is a rare monogenic form of neurodegeneration characterized by iron accumulation in the brain. It is due to variants in the orphan gene C19orf12.
Barbara Gnutti, Arcangela Iuso, Chloé Angelini, Dario Finazzi   +3 more
doaj   +2 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, Jing Yang, Bi Zhao, Huifang Shang, Rui Huang, Xueping Chen   +7 more
doaj   +2 more sources

Nazo, the Drosophila homolog of the NBIA-mutated protein-c19orf12, is required for triglyceride homeostasis. [PDF]

PLoS Genetics
Lipid dyshomeostasis has been implicated in a variety of diseases ranging from obesity to neurodegenerative disorders such as Neurodegeneration with Brain Iron Accumulation (NBIA).
Perinthottathil Sreejith, Sara Lolo, Kristen R Patten, Maduka Gunasinghe, Neya More, Leo J Pallanck, Rajnish Bharadwaj   +6 more
doaj   +2 more sources

Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia. [PDF]

Ann Clin Transl Neurol
ABSTRACT We assessed health‐related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician‐reported outcomes. HRQoL was consistently reduced, particularly in relation to motor, autonomic, and bulbar symptoms.
Schmidt HJD, Battaglia N, Rong J, Tam A, Carty S, Quiroz V, Yang K, Zaman Z, Schierbaum L, Bernardi K, Alecu JE, Ebrahimi-Fakhari D.   +11 more
europepmc   +2 more sources