Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort

Authors: Zhang Y, Shi X, Huang J, Wang C, Wu S, Tian G, Jia J, Chen Y

Source: Neuropsychiatric Disease and Treatment, Vol Volume 21, Pp 677-687 (2025)

Subject Terms: abcd1 gene, hematopoietic stem cell transplantation, pediatric patients, very long chain fatty acids, x-adrenoleukodystrophy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.dovepress.com/genotypic-and-phenotypic-characteristics-of-pediatric-x-adrenoleukodys-peer-reviewed-fulltext-article-NDT; https://doaj.org/toc/1178-2021

Access URL: https://doaj.org/article/0c5a446d67124f91bb589a9289e652ab

From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy

Authors: Xinxin Zuo, Zeyu Chen

Source: Lipids in Health and Disease, Vol 23, Iss 1, Pp 1-11 (2024)

Subject Terms: X-linked adrenoleukodystrophy (X-ALD), Very-long-chain fatty acids (VLCFAs), Genetic mutations, ABCD1, Neurological decline, Gene therapy, Nutritional diseases. Deficiency diseases, RC620-627

File Description: electronic resource

Relation: https://doaj.org/toc/1476-511X

Access URL: https://doaj.org/article/d426e0bad892454db8a1a4d32a77959a

Development of a rabbit model for adrenoleukodystrophy: A pilot study on gene therapy using rAAV9

Authors: Zhou, Xiaoya ^{1, 2, 12}, Ma, Chui-Yan ^{3, 12}, Zhang, Xiaoxian ^{1, 2, 12}, Xu, Xianchuan ², Duan, Fuyu ^{1, 2}, Kou, Meng ^{1, 2}, Liu, Hongsheng ⁵, Zeng, Liang ⁶, Guo, Liyan ^{1, 2}, Chen, Shaoxiang ^{1, 2}, Chen, Li ^{1, 2}, Li, Ziyue ^{1, 2}, Luo, Jie ^{1, 2}, Wu, Jieying ¹, Li, Zhejin ⁷, Li, Zhanjun ⁷, Sui, Tingting ⁷, Yuan, Ping ⁸, Lin, Zhijian ⁹, Chen, Hao ¹⁰, Lai, Liangxue ^{7, 11}, Lian, Qizhou ^{1, 2, 3, 4, ∗}

Source: In Molecular Therapy - Nucleic Acids 11 March 2025 36(1)

Easily misdiagnosed X-linked adrenoleukodystrophy

Authors: Qiu-Hong Wang, Yang-Yang Wang, Jing Wang, Li-Ying Liu, Jing Gao, Guo-Zhen Hao, Chen Chen, Qian Lu, Shuo Dun, Qi Zhang, Li-Ping Zou

Source: Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-7 (2024)

Subject Terms: ABCD1, Addison, Adrenoleukodystrophy, Hit, Infection, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/b27a6c2b25a246bd80116b2cf1696990

An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs

Authors: Vasireddy, Vidyullatha ^{1, 11}, Maguire, Casey A. ^{2, 3}, Anderson, David W. ^{1, 11}, Ng, Carrie ^{2, 3}, Gong, Yi ^{2, 3}, Eichler, Florian ^{2, 3}, Fourcade, Stéphane ^{4, 5}, Guilera, Cristina ^{4, 5}, Onieva, Andrea ^{6, 7}, Sanchez, Angela ^{6, 7}, Leal-Julià, Marc ^{6, 7}, Verdés, Sergi ^{6, 7}, Dijkstra, Inge M.E. ⁹, Kemp, Stephan ⁹, Park, HongGeun ^{1, 12}, Lutz, Tiffany ^{1, 13}, Clark, Sean W. ^{1, 14}, Bosch, Assumpció ^{6, 7, 8}, Pujol, Aurora ^{4, 5, 10}, Kozarsky, Karen ^{1, 15, ∗}

Source: In Molecular Therapy - Methods & Clinical Development 12 December 2024 32(4)

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification

Authors: Xiaoxue Shi, Xuelin Qi, Jinhua Zheng, Jianjun Ma, Dongsheng Li

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: ABCD1 gene, adrenomyeloneuropathy (AMN), point mutation, genetic analysis, functional verification, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1421122/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/528eac6184f5441da0db1c7d8e9dd67b

The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology

Authors: Hemmo A.F. Yska, Marc Engelen, Marianna Bugiani

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

Subject Terms: Adrenoleukodystrophy, Adrenomyeloneuropathy, Cerebral ALD, Pathology, Immunohistochemistry, ABCD1, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/0a7ab393d7ee4a7ba78e06af2344ce85

Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report

Authors: Khrystyna Shchubelka, Olga Herasymenko, Andrii Budzyn, Oleksandr Lysytsia, Anastasiia Rusyn, Olga Oleksyk, Svitlana Tynta, Taras Oleksyk

Source: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-8 (2024)

Subject Terms: Adrenoleukodystrophy, Adrenomyeloneuropathy, ABCD1 gene, Novel variant, Hematopoietic stem cell transplant, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1752-1947

Access URL: https://doaj.org/article/c432b756c28640a68f48e523bbfe8955

Innovative tree-based method for sampling molecular conformations: exploring the ATP-binding cassette subfamily D member 1 (ABCD1) transporter as a case study

Authors: Thomas Haschka, Foudil Lamari, Fanny Mochel, Violetta Zujovic

Source: Frontiers in Molecular Biosciences, Vol 11 (2024)

Subject Terms: molecular simulation, tree, ABCD1, transporter, membrane, adrenoleukodystrophy, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2024.1440529/full; https://doaj.org/toc/2296-889X

Access URL: https://doaj.org/article/0bb247047bb5414282eab07cef68e480

A female adult-onset X-ALD patient with pure cerebellar symptoms:a case report

Authors: Wenjing Qi, Du Cao, Lei Hao, Xiuming Guo

Source: Heliyon, Vol 10, Iss 15, Pp e35705- (2024)

Subject Terms: X-linked adrenoleukodystrophy, Cerebellum, Gene testing, Brain MRI, ABCD1 gene, Science (General), Q1-390, Social sciences (General), H1-99

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024117367; https://doaj.org/toc/2405-8440

Access URL: https://doaj.org/article/7dd5b663f1614a2a98456930bed7a43f

Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review

Authors: Yulai Kang, Lu Guo, Zhuo Min, Lei Zhang, Lili Zhang, Chunhua Tang

Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)

Subject Terms: ABCD1, brainstem, MRI, very long‐chain fatty acids, X‐linked adrenoleukodystrophy, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/f4076f4235c842edb13396be294fbc81

Central precocious puberty in a boy with X-linked adrenoleukodystrophy caused by a novel ABCD1 mutation

Authors: Zhao, Chaoyue ^{a, b, 1}, Zhu, Hanhong ^{c, 1}, Wang, Jie ^a, Liu, Wenlong ^d, Xue, Yongzhen ^d, Hu, Yanyan ^{d, ⁎}

Source: In Heliyon 15 April 2024 10(7)

Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders

Authors: Liling Dong, Li Shang, Caiyan Liu, Chenhui Mao, Xinying Huang, Shanshan Chu, Bin Peng, Liying Cui, Jing Gao

Source: Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-7 (2023)

Subject Terms: Pediatric genetic white matter disorder, Genetic spectrum, ABCD1, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/6546a4afb3884e79af4de74b9a80e4ef

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

Authors: Oliver Heath, Dinusha Pandithan, James Pitt, Elena Savva, Laura Raiti, Jenny Bracken, Moya Vandeleur, Martin B. Delatycki, Joy Yaplito‐Lee, Winita Hardikar, Rebecca Halligan

Source: JIMD Reports, Vol 64, Iss 5, Pp 337-345 (2023)

Subject Terms: ABCD1, BAP31, BCAP31, CADSS, cholestasis, lungs, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/c3de6f8578104d98b093177a3ac08883

Adrenoleukodystrophy: A Rare Clinical Scenario

Authors: Antara Kunwar, Jitendriya Biswal

Source: Indian Journal of Private Psychiatry, Vol 18, Iss 1, Pp 45-47 (2024)

Subject Terms: abcd1 gene, adrenoleukodystrophy, case report, very long-chain fatty acids, Psychiatry, RC435-571

File Description: electronic resource

Relation: https://doaj.org/toc/2319-5363; https://doaj.org/toc/2583-4010

Access URL: https://doaj.org/article/a106b49af97d478c99b03c985d139462

Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy

Authors: Ksenija Martinović, Jan Bauer, Markus Kunze, Johannes Berger, Sonja Forss-Petter

Source: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-16 (2023)

Subject Terms: Abcd1 KO, Axonopathy, Cuprizone, Demyelination, Microglia, Oligodendrocytes, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/fe87c58b73ef4e3997755e94c7911414

Newborn Screening in Japan

Contributors: Tajima, Toshihiro, Yamaguchi, Seiji

Subject Terms: homocystinuria, cystathionine β-synthase deficiency, newborn screening, long-term outcome, social outcome, vitamin B6, methionine, phenylketonuria, hyperphenylalaninemia, phenylalanine hydroxylase, genetic analysis, neonatal screening, genotype–phenotype correlation, adult patients, Japanese, intellectual disability, psychiatric disability, treatment discontinuation, congenital hypothyroidism, Japan, re-evaluations, prevalence, lowering of thyroid stimulating hormone screening cutoffs, thyroid dysgenesis, thyroid dyshormonogenesis, transient congenital hypothyroidism, permanent congenital hypothyroidism, delayed rise in TSH, low birth weight, propionic acidemia, tandem mass spectrometry, propionylcarnitine, cardiomyopathy, QT prolongation, congenital adrenal hyperplasia, 21-hydroxylase deficiency, methylmalonic acidemia, disorders of cobalamin metabolism, hypomethioninemia, isomer, stable-isotope dilution, derivatization, cobalamin, biotin, maternal 3-methylcronylglycinuria, argininosuccinic acid, spinal muscular atrophy, SMN1, deletion, incidence, peroxisomal disorders, adrenoleukodystrophy, very-long-chain fatty acids, plasmalogen, phytanic acid, presymptomatic diagnosis, ABCD1, whole-exome sequencing, dried blood spot, galactosemia, GALM, GALM deficiency, glycogen storage disease type 1a, allele-specific PCR, mCOP-PCR, melting curve, Medicine and Nursing

File Description: image/jpeg

Access URL: https://directory.doabooks.org/handle/20.500.12854/78775
https://mdpi.com/books/pdfview/book/4869

ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis

Authors: Agnieszka Buda, Sonja Forss-Petter, Rong Hua, Yorrick Jaspers, Mark Lassnig, Petra Waidhofer-Söllner, Stephan Kemp, Peter Kim, Isabelle Weinhofer, Johannes Berger

Source: Biomolecules, Vol 13, Iss 9, p 1333 (2023)

Subject Terms: ABCD1, Abcd1 KO mice, cholesterol esters, cortisol, lipidomics, lipid droplets, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-273X/13/9/1333; https://doaj.org/toc/2218-273X

Access URL: https://doaj.org/article/1724e468916c4597804767f5bf44649a

Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population

Authors: Raoli He, Jian Zhang, Tianwen Huang, Guoen Cai, Zhangyu Zou, Qinyong Ye

Source: Frontiers in Neurology, Vol 14 (2023)

Subject Terms: adrenomyeloneuropathy, X-linked adrenoleukodystrophy, spastic paraparesis, ABCD1, mutation, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1126729/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/2af3d9a2a0cc4cedb1c7f89a0d84dcf5

Generation of an immortalized astrocytic cell line from Abcd1-deficient H-2KbtsA58 mice to facilitate the study of the role of astrocytes in X-linked adrenoleukodystrophy

Authors: Morita, Masashi ^{a, ∗}, Toida, Ai ^a, Horiuchi, Yuki ^a, Watanabe, Shiro ^b, Sasahara, Masakiyo ^c, Kawaguchi, Kosuke ^a, So, Takanori ^a, Imanaka, Tsuneo ^d

Source: In Heliyon February 2021 7(2)