副腎白質ジストロフィー遺伝子
WordNet
- (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
- informal term for information; "give me the gen on your new line of computers"
PrepTutorEJDIC
- 遺伝子
UpToDate Contents
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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
- 遺伝性白質脳症とhereditary diffuse leukoencephalopathy with spheroids(HDLS)の分子病態
- A Case of Adult-onset Adrenoleukodystrophy with Frontal Lobe Dysfunction: A Novel Point Mutation in the ABCD1 Gene
Related Links
- 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 ...
- 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 ...
★リンクテーブル★
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- 英
- adrenoleukodystrophy gene
- 同
- ALD遺伝子 ALD gene
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副腎白質ジストロフィー ALD