JAMA Netw Open
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey DB, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman SJ, Powell CM, Taylor JL
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal genetic disorder in which an accumulation of very long-chain fatty acids leads to inflammatory ...
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Source: PubMed
Cell. Mol. Life Sci. 2020 Jan 29
Adenosine-to-inosine RNA editing in the immune system: friend or foe?
Nakahama T, Kawahara Y
Our body expresses sensors to detect pathogens through the recognition of expressed molecules, including nucleic acids, lipids, and proteins, while im ...
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Source: PubMed
Front Genet
Aberrantly High Levels of Somatic LINE-1 Expression and Retrotransposition in Human Neurological Disorders.
Terry DM, Devine SE
Retrotransposable elements (RTEs) have actively multiplied over the past 80 million years of primate evolution, and as a consequence, such elements co ...
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Source: PubMed
Commun Biol
Z-DNA and Z-RNA in human disease.
Herbert A
Left-handed Z-DNA/Z-RNA is bound with high affinity by the Za domain protein family that includes ADAR (a double-stranded RNA editing enzyme), ZBP1 an ...
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Source: PubMed
Ann Clin Transl Neurol 2020 Jan 10
Relapsing-remitting clinical course expands the phenotype of Aicardi-Goutières syndrome.
Lambe J, Murphy OC, Mu W, Sondergaard Schatz K, Barañano KW, Venkatesan A
Aicardi-Goutières syndrome (AGS) is a rare and likely underdiagnosed genetic leukoencephalopathy, typically presenting in infancy with encephalopathy ...
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Source: PubMed
