Results 11 to 20 of about 630 (120)

Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration. [PDF]

PLoS ONE, 2014
Mutations in the orphan gene C19orf12 were identified as a genetic cause in a subgroup of patients with NBIA, a neurodegenerative disorder characterized by deposits of iron in the basal ganglia. C19orf12 was shown to be localized in mitochondria, however,
Arcangela Iuso, Ody C M Sibon, Matteo Gorza, Katharina Heim, Cristina Organisti, Thomas Meitinger, Holger Prokisch   +6 more
doaj   +5 more sources

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+. [PDF]

Frontiers in Genetics, 2015
Mutations in C19orf12 have been identified in patients affected by Neurodegeneration with Brain Iron Accumulation (NBIA), a clinical entity characterized by iron accumulation in the basal ganglia. By using western blot analysis with specific antibody and
Paola eVenco, Massimo eBonora, Carlotta eGiorgi, Elena ePapaleo, Arcangela eIuso, Arcangela eIuso, Holger eProkisch, Holger eProkisch, Paolo ePinton, Valeria eTiranti   +9 more
doaj   +5 more sources

The Downregulation of c19orf12 Negatively Affects Neuronal and Musculature Development in Zebrafish Embryos [PDF]

Frontiers in Cell and Developmental Biology, 2020
Mitochondrial membrane Protein Associated Neurodegeneration (MPAN) is a rare genetic disorder due to mutations in C19orf12 gene. In most cases, the disorder is transmitted as an autosomal recessive trait and the main clinical features are progressive ...
Luca Mignani, Daniela Zizioli, Giuseppe Borsani, Eugenio Monti, Dario Finazzi, Dario Finazzi   +5 more
doaj   +4 more sources

Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from fibroblasts of MPAN patients carrying pathogenic recessive mutations in the gene C19orf12

Stem Cell Research, 2023
Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN) is a lethal neurodegenerative disorder caused by mutations in the human gene C19orf12.
Enrica Zanuttigh, Ejona Rusha, Camille Peron, Dario Brunetti, Giovanna Zorzi, Anna Pertek, Polyxeni Nteli, Juliane Winkelmann, Valeria Tiranti, Arcangela Iuso   +9 more
doaj   +2 more sources

Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience [PDF]

Children
Objective: The classification of hereditary spastic paraplegia (HSP) is based on genetics, and the number of genetic loci continues to increase with new genetic descriptions.
Seyda Besen, Yasemin Özkale, Murat Özkale, Sevcan Tuğ Bozdoğan, Özlem Alkan, Serdar Ceylaner, İlknur Erol   +6 more
doaj   +2 more sources

LEP and FOXO1 genes, as a proposed tumor suppressor autophagic cell death related genes, can be targeted by antidiabetic therapy in nondiabetic breast cancer patients [PDF]

Discover Oncology
Introduction Breast cancer can be treated effectively with personalized, gene-targeted therapies due to its molecular and genetic differences. Our study aims to identify breast cancer-specific tumor suppressor genes related to autophagic cell death and ...
Gizem Ayna Duran, Yağmur Kiraz, Deniz Baykara   +2 more
doaj   +2 more sources

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility
Uygun Ö, Özcan A, Aras FK, Bozdemir E, Uğur İşeri S, Kırımtay K, Karabay A, Gültekin M, Akçakaya NH, Mammadov O, Kır G, İnce Günal D, Tuncer N, Özdilek FB, Özen Barut B, Köse E, Apaydın H, Ali A, Çağırıcı S, Topaloğlu P, Dinçer A, Yapıcı Z.   +21 more
europepmc   +2 more sources

Distinct Neurodegenerative Pathways in Two NBIA Subtypes: Inflammatory Activation in C19orf12 but Not in PANK2 Mutation Carriers [PDF]

Cells
Background: Biomarker analysis in neurodegeneration with brain iron accumulation (NBIA) can offer valuable insights into the disease’s pathology and natural history.
Marta Skowrońska, Agnieszka Cudna, Barbara Pakuła, Magdalena Lebiedzińska-Arciszewska, Justyna Janikiewicz, Aneta M. Dobosz, Patrycja Jakubek-Olszewska, Agata Wydrych, Maciej Cwyl, Agnieszka Dobrzyń, Mariusz R. Więckowski, Iwona Kurkowska-Jastrzębska   +11 more
doaj   +2 more sources

Very Late-Onset Neurodegeneration with Brain Iron Accumulation Associated with Mild Chorea: A Clinicopathological Case. [PDF]

Mov Disord Clin Pract
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) rarely manifests after the age of 50 years. The phenotype in these cases is most often parkinsonism. Objectives To present the case with the oldest age of NBIA onset reported so far. Methods Clinico‐pathological case.
Sipilä JOT, Hietaharju A, Saukkonen AM, Kytövuori L, Balk L, Kaasinen V, Rauramaa T.   +6 more
europepmc   +2 more sources

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Thomsen M, Ott F, Loens S, Kilic-Berkmen G, Tan AH, Lim SY, Lohmann E, Schröder KM, Ipsen L, Nothacker LA, Welzel L, Rudnik AS, Hinrichs F, Odorfer T, Zeuner KE, Schumann F, Kühn AA, Zittel S, Moeller M, Pfister R, Kamm C, Lang AE, Tay YW, de Almeida Marcelino AL, Vidailhet M, Roze E, Perlmutter JS, Feuerstein JS, Fung VSC, Chang F, Barbano RL, Bellows S, Wagle Shukla AA, Espay AJ, LeDoux MS, Berman BD, Reich S, Deik A, Franke A, Wittig M, Franzenburg S, Volkmann J, Brüggemann N, Jinnah HA, Bäumer T, Klein C, Busch H, Lohmann K.   +47 more
europepmc   +2 more sources