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Human Monoclonal PANK2 Primary Antibody für FACS, IF - ABIN2453420
Brunetti, Dusi, Morbin, Uggetti, Moda, DAmato, Giordano, dAmati, Cozzi, Levi, Hayflick, Tiranti: Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model. in Human molecular genetics 2012
Show all 2 Pubmed References
PANK2 mutations have an effect on iPSC-derived cortical neuronal cells in culture
These findings provide direct evidence that PANK2 malfunctioning is responsible for abnormal phenotypes in human neuronal cells of pantothenate kinase (zeige FBL Antikörper)-associated neurodegeneration patients.
A deleterious homozygous four-nucleotide deletion causing frameshift deletion in PANK2 gene (c.1426_1429delATGA, p.M476 fs) was identified in an 8 years old girl with dystonia, bone fracture, muscle rigidity, abnormal movement, lack of coordination and chorea.
Results show that overexpression of PANK2 results in substantial elevated level of Co-A in skeletal muscle in transgenic mice which displays reduced skeletal muscle mass and significantly impaired exercise tolerance and grip strength.
Homozygous PANK2 mutations in 22 PKAN patients from 13 Turkish families.
We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF (zeige SCN5A Antikörper)) with a preimplantation genetic diagnosis (PGD (zeige PGD Antikörper)) for pantothenate kinase (zeige FBL Antikörper)-associated neurodegeneration (PKAN) due to PANK2 mutation
Tissue or cellular hypoxic/ischemic injury within the globus pallidus may underlie the pathogenesis of pantothenate kinase (zeige FBL Antikörper)-associated neurodegeneration due to PANK2 mutations and apoE (zeige APOE Antikörper) aggregates.
Mutations in PANK2 and CoASY lead, respectively, to PKAN and CoPAN forms of Neurodegeneration with brain iron accumulation . Mutations in PLA2G6 lead to PLAN. Mutations in C19orf12 lead to MPAN
Data suggests that the c.680 A>G mutation in the PANK2 gene alone is not sufficient to determine acanthocytic shape transformation in erythrocytes but some additional factor(s)/condition(s) are necessary for acanthocytosis to occur.
Novel PANK2 gene mutations and clinical features in patients with pantothenate kinase (zeige FBL Antikörper)-associated neurodegeneration.
Pank2(-/-) mice fed with a ketogenic diet developed a pantothenate kinase (zeige FBL Antikörper)-associated neurodegeneration-like syndrome
Data demonstrate that Pank2 localizes to mitochondria. Pank2-defective neurons have an altered mitochondrial membrane potential, a defect further corroborated by swollen mitochondria at the ultra-structural level and by defective respiration.
The data indicate that PanK1 and PanK2 can compensate for each other to supply tissue CoA.
expression of PanK2 was higher in human brain compared to mouse brain
This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms.
pantothenate kinase 2 (Hallervorden-Spatz syndrome)
, pantothenate kinase 2
, pantothenate kinase 2, mitochondrial-like
, Hallervorden-Spatz syndrome
, pantothenate kinase 2, mitochondrial
, pantothenic acid kinase 2