Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study

Authors: Lujie Zhang, Yongqiu Yu, Ting Liu, Chongyi Li, Liang Tan, Shuiqian Wen

Source: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-15 (2025)

Subject Terms: X-linked adrenoleukodystrophy, Optical coherence tomography angiography, Retinal vascular, Neurodegeneration, Medicine

File Description: electronic resource

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

Access URL: https://doaj.org/article/1fcfedd3b77d4964ae725452861e3f7d

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)

Adrenoleukodystrophy: Symptoms, Treatment and Newborn Screening. Literature Review and Clinical Case

Authors: Laura Regelskytė, Rūta Praninskienė

Source: Neurologijos seminarai, Vol 28, Iss 1(99) (2024)

Subject Terms: X-linked adrenoleukodystrophy, cerebral form, stem cell transplantation, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://ojs.test/index.php/neurologijos_seminarai/article/view/38297; https://doaj.org/toc/1392-3064; https://doaj.org/toc/2424-5917

Access URL: https://doaj.org/article/056fcc9d70914868b19dc9b46dd8ca74

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)

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

Authors: Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders, Alberto Burlina

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

Subject Terms: Peroxisomal disorders, Zellweger spectrum disorders, X-linked adrenoleukodystrophy, Oxidative stress, Autophagy, Mitogen-activated protein kinases (MAPKs), Medicine

File Description: electronic resource

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

Access URL: https://doaj.org/article/c58590f104974169867af1cbdb4fa339

Emerging Role of Ubiquitin Proteasome System and Autophagy in Pediatric Demyelinating Leukodystrophies and Therapeutic Opportunity

Authors: Dar-Shong Lin, Che-Sheng Ho

Source: Cells, Vol 13, Iss 22, p 1873 (2024)

Subject Terms: white matter diseases, demyelinating leukodystrophies, X-linked adrenoleukodystrophy, globoid cell leukodystrophy, autophagy, ubiquitin–proteasome system, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/13/22/1873; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/5c389ffbc60a4a2c8eed22743af0f857

Role of ACSBG1 in Brain Lipid Metabolism and X-Linked Adrenoleukodystrophy Pathogenesis: Insights from a Knockout Mouse Model

Authors: Xiaoli Ye, Yuanyuan Li, Domingo González-Lamuño, Zhengtong Pei, Ann B. Moser, Kirby D. Smith, Paul A. Watkins

Source: Cells, Vol 13, Iss 20, p 1687 (2024)

Subject Terms: ACSBG1, bubblegum, X-linked adrenoleukodystrophy, very long-chain fatty acid, brain fatty acid levels, eicosanoids and docosanoids, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/13/20/1687; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/af92b82d09844b3baa4523893b94d89f

Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring

Authors: Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala

Source: Frontiers in Neurology, Vol 15 (2024)

Subject Terms: X-ALD, X-linked adrenoleukodystrophy (X-ALD), Zellweger Spectrum Disorders, Aicardi-Goutières syndrome (AGS), hematopoietic stem cell transplantation (HCST), newborn screening (NBS), Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1376447/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/3fe63f5679824882a78a685fa671eea6

Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients

Authors: Zhixing Zhu, Georgi Z. Genchev, Yanmin Wang, Wei Ji, Xiaofen Zhang, Hui Lu, Sira Sriswasdi, Guoli Tian

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)

Subject Terms: X-linked adrenoleukodystrophy, X-ALD, Zellweger syndrome, Very long chain fatty acids, C26: carnitine, Hexacosanoylcarnitine, Medicine

File Description: electronic resource

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

Access URL: https://doaj.org/article/07e1aa6dcf004addaffa4290fcf2b61f

Saturated very long-chain fatty acids regulate macrophage plasticity and invasiveness

Authors: Bettina Zierfuss, Agnieszka Buda, Andrea Villoria-González, Maxime Logist, Jure Fabjan, Patricia Parzer, Claire Battin, Streggi Vandersteene, Inge M. E. Dijkstra, Petra Waidhofer-Söllner, Katharina Grabmeier-Pfistershammer, Peter Steinberger, Stephan Kemp, Sonja Forss-Petter, Johannes Berger, Isabelle Weinhofer

Source: Journal of Neuroinflammation, Vol 19, Iss 1, Pp 1-20 (2022)

Subject Terms: Extracellular matrix degradation, Immune response, Lipid metabolism, Neuroinflammation, X-linked adrenoleukodystrophy, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/1742-2094

Access URL: https://doaj.org/article/28432a9f70e04eb791392053b1e9a1b7

X-linked adrenoleukodystrophy and primary adrenal insufficiency

Authors: Marco Cappa, Tommaso Todisco, Carla Bizzarri

Source: Frontiers in Endocrinology, Vol 14 (2023)

Subject Terms: X-linked adrenoleukodystrophy, primary adrenal insufficiency, very long chain fatty acids, adrenal function, cortisol replacement, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1309053/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/ad1af5f6b7e1432791382669afe65135

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

Elivaldogene autotemcel approved for treatment of cerebral adrenoleukodystrophy (CALD) in males: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Authors: Anna I. Scott, Kanwaldeep K. Mallhi, Jaya Ganesh, Wei-Liang Chen

Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100835- (2023)

Subject Terms: Cerebral, Elivaldogene, Gene therapy, Newborn screening, X-linked adrenoleukodystrophy, Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423008440; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/d032a9492f914d1281cdcae3c0844a0d

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

Authors: Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala

Source: Frontiers in Neurology, Vol 13 (2023)

Subject Terms: X-ALD, X-linked adrenoleukodystrophy (X-ALD), Zellweger Spectrum Disorders, Aicardi-Goutières syndrome (AGS), hematopoietic stem cell transplantation (HCST), newborn screening (NBS), Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1072256/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/8ddb7b61f9a94a7d98d8b68e6ba8ddab

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)

Genetic aetiology of primary adrenal insufficiency in Chinese children

Authors: Zhuo Chang, Wei Lu, Zhuhui Zhao, Li Xi, Xiaojing Li, Rong Ye, Jinwen Ni, Zhou Pei, Miaoying Zhang, Ruoqian Cheng, Zhangqian Zheng, Chengjun Sun, Jing Wu, Feihong Luo

Source: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)

Subject Terms: Primary adrenal insufficiency, Genetic diagnosis, Whole-exome sequencing, Congenital adrenal hyperplasia, Triple A syndrome, X-linked adrenoleukodystrophy, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/4a16a44451494286a10efbdc7806f2c2

Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair

Authors: Eul Sik Jung, Ji Hun Kim, Mi-Yoon Chang, Wonjun Hong, Zhejiu Quan, Seung Hyun Kim, Seungkwon You, Dae-Sung Kim, Jiho Jang, Sang-Hun Lee, Hyongbum Henry Kim, Hoon Chul Kang

Source: Stem Cell Research, Vol 59, Iss , Pp 102664- (2022)

Subject Terms: X-linked adrenoleukodystrophy, Induced pluripotent stem cell, Genome editing, CRISPR/Cas9, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506122000137; https://doaj.org/toc/1873-5061

Access URL: https://doaj.org/article/5d11b80c4cb347fb883062844b1ab6e8