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Keyword

PANK2

Description: PANK2 is a human protein-coding gene that encodes pantothenate kinase 2, an enzyme involved in coenzyme A biosynthesis and associated with neurodegeneration.
Wikidata ID: wiki/Q18046547
OpenAlex ID: keywords/pank2
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
2001 · Bing Zhou, Shawn K. Westaway, et al. · Nature Genetics · 752
Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome
2003 · Susan J. Hayflick, Shawn K. Westaway, et al. · New England Journal of Medicine · 714
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Clinical and genetic delineation of neurodegeneration with brain iron accumulation
2008 · A Gregory, B J Polster, et al. · Journal of Medical Genetics · 363
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The genetics and neuropathology of Parkinson’s disease
2012 · Henry Houlden, Andrew B. Singleton · Acta Neuropathologica · 316
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
2006 · Monika B. Hartig, Konstanze Hörtnagel, et al. · Annals of Neurology · 183
Iron dysregulation in movement disorders
2012 · Petr Dusek, Joseph Jankovic, et al. · Neurobiology of Disease · 170
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms
2014 · Sonia Levi, Dario Finazzi · Frontiers in Pharmacology · 164
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Altered Neuronal Mitochondrial Coenzyme A Synthesis in Neurodegeneration with Brain Iron Accumulation Caused by Abnormal Processing, Stability, and Catalytic Activity of Mutant Pantothenate Kinase 2
2005 · Paul T. Kotzbauer, Adam C. Truax, et al. · Journal of Neuroscience · 148
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Brain iron homeostasis and neurodegenerative disease
2009 · Eduardo E. Benarroch · Neurology · 141
Deficiency of pantothenate kinase 2 ( Pank2 ) in mice leads to retinal degeneration and azoospermia
2004 · Yien-Ming Kuo, Jacque L. Duncan, et al. · Human Molecular Genetics · 139
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Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.
2006 · S J Hayflick, M Hartman, et al. · PubMed · 135
Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories
2015 · C. E. Arber, A. Li, et al. · Neuropathology and Applied Neurobiology · 131
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An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria
2003 · K. Hortnagel · Human Molecular Genetics · 127
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Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration
2011 · M. C. Kruer, M. Hiken, et al. · Brain · 125
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Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase???associated neurodegeneration is the name . . .
2003 · Susan J. Hayflick · Current Opinion in Pediatrics · 119
Neurodegenerative disease and iron storage in the brain
2004 · Madhavi Thomas, Joseph Jankovic · Current Opinion in Neurology · 117
Mitochondrial Localization of Human PANK2 and Hypotheses of Secondary Iron Accumulation in Pantothenate Kinase‐Associated Neurodegeneration
2004 · MONIQUE A. JOHNSON, YIEN MING KUO, et al. · Annals of the New York Academy of Sciences · 112
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model
2012 · Dario Brunetti, Sabrina Dusi, et al. · Human Molecular Genetics · 111
A therapeutic approach to pantothenate kinase associated neurodegeneration
2018 · Lalit Kumar Sharma, Chitra Subramanian, et al. · Nature Communications · 105
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Genetics of Neurodegeneration with Brain Iron Accumulation
2011 · Allison Gregory, Susan J. Hayflick · Current Neurology and Neuroscience Reports · 104
Coenzyme A biosynthesis: mechanisms of regulation, function and disease
2024 · Samuel A. Barritt, Sarah E. DuBois-Coyne, et al. · Nature Metabolism · 103
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model
2013 · Dario Brunetti, Sabrina Dusi, et al. · Brain · 103
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Hereditary Causes of Disturbed Iron Homeostasis in the Central Nervous System
2004 · PREM PONKA · Annals of the New York Academy of Sciences · 100
PI3K drives the de novo synthesis of coenzyme A from vitamin B5
2022 · Christian C. Dibble, Samuel A. Barritt, et al. · Nature · 96
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Neuroacanthocytosis: new developments in a neglected group of dementing disorders
2005 · Adrian Danek, Hans H. Jung, et al. · Journal of the Neurological Sciences · 95
Works count: 433
Citation count: 9,473
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