adrenoleukodystrophy gene

副腎白質ジストロフィー遺伝子

WordNet

1. (genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors" (同)cistron, factor
2. informal term for information; "give me the gen on your new line of computers"

PrepTutorEJDIC

1. 遺伝子

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• 1. 副腎白質ジストロフィー adrenoleukodystrophy
• 2. 遺伝性運動失調の概要 overview of the hereditary ataxias
• 3. ペルオキシソーム病 peroxisomal disorders
• 4. 小児における原発性副腎不全の原因および臨床症状 causes and clinical manifestations of primary adrenal insufficiency in children
• 5. 神経学の最新情報 whats new in neurology

English Journal

• ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy.

• Baarine M1, Beeson C, Singh A, Singh I.
• Journal of neurochemistry.J Neurochem.2014 Nov 13. doi: 10.1111/jnc.12992. [Epub ahead of print]
• X-linked Adrenoleukodystrophy (X-ALD), an inherited peroxisomal metabolic neurodegenerative disorder, is caused by mutations/deletions in the ABCD1 gene encoding peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP). Metabolic dysfunction in X-ALD is characterized by the accumulation of ve
• PMID 25393703

• Mitochondrial dysfunction in central nervous system white matter disorders.

• Morató L1, Bertini E, Verrigni D, Ardissone A, Ruiz M, Ferrer I, Uziel G, Pujol A.
• Glia.Glia.2014 Nov;62(11):1878-94. doi: 10.1002/glia.22670. Epub 2014 May 28.
• Defects of mitochondrial respiration and function had been proposed as a major culprit in the most common neurodegenerative diseases, including prototypic diseases of central nervous system (CNS) white matter such as multiple sclerosis. The importance of mitochondria for white matter is best exempli
• PMID 24865954

• X-linked adrenoleukodystrophy: pathogenesis and treatment.

• Engelen M1, Kemp S, Poll-The BT.
• Current neurology and neuroscience reports.Curr Neurol Neurosci Rep.2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0.
• X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 gene and accumulate very long chain fatty acids in all tissues. Virtually all male X-ALD patients develop adrenocortical insuffic
• PMID 25115486

Japanese Journal

• Lorenzo's oil inhibits ELOVL1 and lowers the level of sphingomyelin with a saturated very long-chain fatty acid

• Journal of Lipid Research 55(3), 524-530, 2014-03
• NAID 120005457018

• 遺伝性白質脳症とhereditary diffuse leukoencephalopathy with spheroids（HDLS）の分子病態

• 臨床神経学 52(11), 1386-1389, 2012
• NAID 130004505172

• A Case of Adult-onset Adrenoleukodystrophy with Frontal Lobe Dysfunction: A Novel Point Mutation in the ABCD1 Gene

• Internal Medicine 51(11), 1403-1406, 2012
• NAID 130002062117

Related Links

• Adrenoleukodystrophy - Genes and Disease - NCBI Bookshelf

Adrenoleukodystrophy (ALD) is a rare, inherited metabolic disorder that afflicts the young boy Lorenzo Odone, whose story is told in the 1993 film "Lorenzo's oil." In this disease, the fatty covering (myelin sheath) on nerve fibers in the ...

• X-Linked Adrenoleukodystrophy - GeneReviews® - NCBI ...

Normal gene product. The adrenoleukodystrophy protein (ALDP) contains 745 amino acids and is located in the peroxisomal membrane. It is a member of the ATP-binding cassette (ABC) protein transporter family. It is a specificity ...

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リンク元	「副腎白質ジストロフィー遺伝子」
関連記事	「adrenoleukodystrophy」

「副腎白質ジストロフィー遺伝子」

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英

adrenoleukodystrophy gene

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ALD遺伝子 ALD gene

「adrenoleukodystrophy」

　　[★] 副腎白質ジストロフィー ALD