BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 34002881)

  • 1. Rational Design of Novel Therapies for Pantothenate Kinase-Associated Neurodegeneration.
    Thakur N; Klopstock T; Jackowski S; Kuscer E; Tricta F; Videnovic A; Jinnah HA
    Mov Disord; 2021 Sep; 36(9):2005-2016. PubMed ID: 34002881
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
    Álvarez-Córdoba M; Reche-López D; Cilleros-Holgado P; Talaverón-Rey M; Villalón-García I; Povea-Cabello S; Suárez-Rivero JM; Suárez-Carrillo A; Munuera-Cabeza M; Piñero-Pérez R; Sánchez-Alcázar JA
    Orphanet J Rare Dis; 2022 Aug; 17(1):311. PubMed ID: 35945593
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds.
    Ceccatelli Berti C; Gilea AI; De Gregorio MA; Goffrini P
    Int J Mol Sci; 2020 Dec; 22(1):. PubMed ID: 33396642
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
    Talaverón-Rey M; Álvarez-Córdoba M; Villalón-García I; Povea-Cabello S; Suárez-Rivero JM; Gómez-Fernández D; Romero-González A; Suárez-Carrillo A; Munuera-Cabeza M; Cilleros-Holgado P; Reche-López D; Piñero-Pérez R; Sánchez-Alcázar JA
    Orphanet J Rare Dis; 2023 Apr; 18(1):80. PubMed ID: 37046296
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration.
    Klopstock T; Escolar ML; Marshall RD; Perez-Dueñas B; Tuller S; Videnovic A; Greblikas F
    Clin Trials; 2019 Aug; 16(4):410-418. PubMed ID: 31055958
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives.
    Álvarez-Córdoba M; Talaverón-Rey M; Villalón-García I; Povea-Cabello S; Suárez-Rivero JM; Suárez-Carrillo A; Munuera-Cabeza M; Salas JJ; Sánchez-Alcázar JA
    Orphanet J Rare Dis; 2021 May; 16(1):201. PubMed ID: 33952316
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
    Klopstock T; Videnovic A; Bischoff AT; Bonnet C; Cif L; Comella C; Correa-Vela M; Escolar ML; Fraser JL; Gonzalez V; Hermanowicz N; Jech R; Jinnah HA; Kmiec T; Lang A; Martí MJ; Mercimek-Andrews S; Monduy M; Nimmo GAM; Perez-Dueñas B; Pfeiffer HCV; Planellas L; Roze E; Thakur N; Tochen L; Vanegas-Arroyave N; Zorzi G; Burns C; Greblikas F
    Mov Disord; 2021 Jun; 36(6):1342-1352. PubMed ID: 33200489
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.
    Hayflick SJ
    Curr Opin Pediatr; 2003 Dec; 15(6):572-7. PubMed ID: 14631201
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pantothenate Kinase Activation Restores Brain Coenzyme A in a Mouse Model of Pantothenate Kinase-Associated Neurodegeneration.
    Subramanian C; Frank MW; Sukhun R; Henry CE; Wade A; Harden ME; Rao S; Tangallapally R; Yun MK; White SW; Lee RE; Sinha U; Rock CO; Jackowski S
    J Pharmacol Exp Ther; 2024 Jan; 388(1):171-180. PubMed ID: 37875310
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.
    Tanteles GA; Spanou-Aristidou E; Antoniou C; Christophidou-Anastasiadou V; Kleopa KA
    J Neurol Sci; 2014 May; 340(1-2):233-6. PubMed ID: 24655737
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings.
    Doi H; Koyano S; Miyatake S; Matsumoto N; Kameda T; Tomita A; Miyaji Y; Suzuki Y; Sawaishi Y; Kuroiwa Y
    J Neurol Sci; 2010 Mar; 290(1-2):172-6. PubMed ID: 20006850
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report.
    Tran VK; Vu CD; Tran HA; Lien NTK; Tung NV; Lan NN; Tran HT; Hoang NH
    Medicine (Baltimore); 2023 Oct; 102(43):e34853. PubMed ID: 37904482
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation.
    Álvarez-Córdoba M; Fernández Khoury A; Villanueva-Paz M; Gómez-Navarro C; Villalón-García I; Suárez-Rivero JM; Povea-Cabello S; de la Mata M; Cotán D; Talaverón-Rey M; Pérez-Pulido AJ; Salas JJ; Pérez-Villegas EM; Díaz-Quintana A; Armengol JA; Sánchez-Alcázar JA
    Mol Neurobiol; 2019 May; 56(5):3638-3656. PubMed ID: 30173408
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature.
    Pan S; Zhu C
    Neurocase; 2020 Jun; 26(3):175-182. PubMed ID: 32310012
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.
    Werning M; Dobretzberger V; Brenner M; Müllner EW; Mlynek G; Djinovic-Carugo K; Baron DM; Fragner L; Bischoff AT; Büchner B; Klopstock T; Weckwerth W; Salzer U
    Biomolecules; 2022 Feb; 12(2):. PubMed ID: 35204826
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Precision medicine in pantothenate kinase-associated neurodegeneration.
    Alvarez-Cordoba M; Villanueva-Paz M; Villalón-García I; Povea-Cabello S; Suárez-Rivero JM; Talaverón-Rey M; Abril-Jaramillo J; Vintimilla-Tosi AB; Sánchez-Alcázar JA
    Neural Regen Res; 2019 Jul; 14(7):1177-1185. PubMed ID: 30804242
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration.
    Rana A; Seinen E; Siudeja K; Muntendam R; Srinivasan B; van der Want JJ; Hayflick S; Reijngoud DJ; Kayser O; Sibon OC
    Proc Natl Acad Sci U S A; 2010 Apr; 107(15):6988-93. PubMed ID: 20351285
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.
    Akcakaya NH; Iseri SU; Bilir B; Battaloglu E; Tekturk P; Gultekin M; Akar G; Yigiter R; Hanagasi H; Alp R; Cagirici S; Eraksoy M; Ozbek U; Yapici Z
    Clin Neurol Neurosurg; 2017 Mar; 154():34-42. PubMed ID: 28113101
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.
    Pérez-González EA; Chacón-Camacho OF; Arteaga-Vázquez J; Zenteno JC; Mutchinick OM
    Eur J Med Genet; 2013 Nov; 56(11):606-8. PubMed ID: 24075960
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
    Cheng Y; Liu YT; Yang ZH; Yang J; Shi CH; Xu YM
    Int J Neurosci; 2018 Dec; 128(12):1109-1113. PubMed ID: 29962256
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.