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Human Polyclonal PANK2 Primary Antibody for ELISA, WB - ABIN543681
Hörtnagel, Prokisch, Meitinger: An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. in Human molecular genetics 2003
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Human Polyclonal PANK2 Primary Antibody for ELISA, WB - ABIN543682
Ching, Westaway, Gitschier, Higgins, Hayflick: HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. in Neurology 2002
Show all 3 Pubmed References
Human Monoclonal PANK2 Primary Antibody for FACS, IF - ABIN2728202
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
Study identified c.1069C > T missense variation (rs753376100) in exon 3 of PANK2 gene associated with Pantothenate kinase-associated Neurodegeneration (PKAN) that had segregated in the family in an autosomal recessive mode. The clinical phenotype was found to be concordant with classic PKAN in terms of the age of onset, symptoms and radiological findings. The variant amino acid was mapped within the catalytic site.
We found c.966 G>T (p.Glu322Asp) mutation in the PANK2 gene mutation analysis in the individuals from the brain imaging findings. Although individuals in this family who had a homozygous mutation in PANK2 gene analyses had the 'eye-of-the-tiger' sign and atypical disease, they were noted to have differing clinical findings.
Results from a study on gene expression variability markers in early-stage human embryos shows that PANK2 is a putative expression variability marker for the 3-day, 8-cell embryo stage.
The key finding of the study encompassed the detection of a novel PANK2 gene mutation in a child of Chinese ethnicity with PKAN. The PANK2 gene c.A650G, as well as c.T1341G, mutations may be potential mutation hotspots in children with PKAN in Mainland China.
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-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) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation
Tissue or cellular hypoxic/ischemic injury within the globus pallidus may underlie the pathogenesis of pantothenate kinase-associated neurodegeneration due to PANK2 mutations and apoE 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-associated neurodegeneration.
study presents 2 siblings who were homozygous for a novel c.695A>G (p.Asp232Gly) missense mutation in exon 2 of PANK2 gene; index patient presented with a 5-year history of slowly progressive gait disturbance, dysarthria, mild axial rigidity and bradykinesia
Caucasian patients have more complex presentations than Asians. Exon 3 and 4 are hot spots for screening PANK2 mutations in Asian patients.
we describe the clinical, radiological, and molecular find-ings of a classic PKAN patient of Iranian descent with a novel frameshift mutation in the coding region of the PANK2 gene
Identification of novel compound heterozygous mutations in PANK2 gene in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.
Mutations in both PANK2 and C19orf12 contributed significantly to neurodegeneration with brain iron accumulation in the Iranian patients
Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients highlight a possible molecular relationship between Pank2 deficiency and iron misregulation.
This study showed that PANK2 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder.
Pank2(-/-) mice fed with a ketogenic diet developed a pantothenate kinase-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