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37 results

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X-linked adrenoleukodystrophy: pathogenesis and treatment.
Engelen M, Kemp S, Poll-The BT. Engelen M, et al. Curr Neurol Neurosci Rep. 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0. Curr Neurol Neurosci Rep. 2014. PMID: 25115486 Review.
X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. ...
X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectr …
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
Vilvarajan S, McDonald M, Douglas L, Newham J, Kirkland R, Tzannes G, Tay D, Christodoulou J, Thompson S, Ellaway C. Vilvarajan S, et al. Genes (Basel). 2023 Aug 11;14(8):1607. doi: 10.3390/genes14081607. Genes (Basel). 2023. PMID: 37628658 Free PMC article. Review.
We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professionals to enable early diagnosis and a streamlined enrolment approach for future clinical trials. Rett syndrome, a complex X-linked …
We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professiona …
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ. Gupta AO, et al. Expert Opin Biol Ther. 2022 Sep;22(9):1151-1162. doi: 10.1080/14712598.2022.2124857. Epub 2022 Sep 19. Expert Opin Biol Ther. 2022. PMID: 36107226 Review.
INTRODUCTION: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with an incidence of 1 in 14-17,000 male births, caused by pathogenic variants within the ABCD1 gene. ...
INTRODUCTION: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with an incidence of 1 in 14-17,000 male b …
Monocarboxylate Transporters (SLC16): Function, Regulation, and Role in Health and Disease.
Felmlee MA, Jones RS, Rodriguez-Cruz V, Follman KE, Morris ME. Felmlee MA, et al. Pharmacol Rev. 2020 Apr;72(2):466-485. doi: 10.1124/pr.119.018762. Pharmacol Rev. 2020. PMID: 32144120 Free PMC article. Review.
The solute carrier family 16 (SLC16) is comprised of 14 members of the monocarboxylate transporter (MCT) family that play an essential role in the transport of important cell nutrients and for cellular metabolism and pH regulation. ...Expressed at the blood brain barrier, …
The solute carrier family 16 (SLC16) is comprised of 14 members of the monocarboxylate transporter (MCT) family that play an essentia …
X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C. Cappa M, et al. Front Endocrinol (Lausanne). 2023 Nov 16;14:1309053. doi: 10.3389/fendo.2023.1309053. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38034003 Free PMC article. Review.
X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters sub-family D member 1 gene (ABCD1) producing adrenoleukodystrophy protein (ALDP). ...
X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect i …
Genetic cerebellar ataxias.
Storey E. Storey E. Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192506 Review.
However, at least half of dominant ataxias (SCAs) are caused by (CAG)n repeat expansions resulting in expanded polyglutamine tracts (SCAs 1, 2, 3, 6, 7, 17, and DRPLA), although of the remainder only SCAs 8, 10, 12, 14, 15/16, and 31 are frequent enough that the described …
However, at least half of dominant ataxias (SCAs) are caused by (CAG)n repeat expansions resulting in expanded polyglutamine tracts (SCAs 1, …
X-linked mental retardation.
Lisik MZ, Sieron AL. Lisik MZ, et al. Med Sci Monit. 2008 Nov;14(11):RA221-9. Med Sci Monit. 2008. PMID: 18971887 Review.
Of these genetic causes, 25-30% are probably due to mutations on the X chromosome (X-linked mental retardation, XLMR). XLMR is a heterogeneous set of conditions involved in a large proportion of inherited mental retardation. ...The distinction between these forms of …
Of these genetic causes, 25-30% are probably due to mutations on the X chromosome (X-linked mental retardation, XLMR). XLMR is …
Newborn screening for adrenoleukodystrophy: International experiences and challenges.
Videbæk C, Melgaard L, Lund AM, Grønborg SW. Videbæk C, et al. Mol Genet Metab. 2023 Dec;140(4):107734. doi: 10.1016/j.ymgme.2023.107734. Epub 2023 Nov 10. Mol Genet Metab. 2023. PMID: 37979237 Free article. Review.
X-linked adrenoleukodystrophy (XALD) is the most common leukodystrophy. ...In this review, we have examined the algorithms, methodologies, and outcomes used, as well as how common challenges are addressed in countries/states that have experience using NBS for XALD. …
X-linked adrenoleukodystrophy (XALD) is the most common leukodystrophy. ...In this review, we have examined the algorithms, me …
mRNA metabolism and neuronal disease.
Linder B, Fischer U, Gehring NH. Linder B, et al. FEBS Lett. 2015 Jun 22;589(14):1598-606. doi: 10.1016/j.febslet.2015.04.052. Epub 2015 May 13. FEBS Lett. 2015. PMID: 25957814 Free article. Review.
Here we discuss three prominent genetic diseases that fall into this category, namely spinal muscular atrophy (SMA), retinitis pigmentosa (RP) and X-linked syndromic mental retardation (XLMR). Whereas SMA and RP can be directly linked to mRNA processing, XLMR result …
Here we discuss three prominent genetic diseases that fall into this category, namely spinal muscular atrophy (SMA), retinitis pigmentosa (R …
Detection and validation of copy number variation in X-linked mental retardation.
Bauters M, Weuts A, Vandewalle J, Nevelsteen J, Marynen P, Van Esch H, Froyen G. Bauters M, et al. Cytogenet Genome Res. 2008;123(1-4):44-53. doi: 10.1159/000184691. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287138 Review.
Studies to identify the genetic defects associated with X-linked mental retardation (XLMR) in males have revealed tens of genes important for normal brain development and cognitive functioning in men. ...Here, we review the different methods applied to study …
Studies to identify the genetic defects associated with X-linked mental retardation (XLMR) in males have revealed tens of g …
37 results