Adult-onset leukodystrophy due to TMEM63A variant presenting with rapidly progressive dementia with parkinsonism by Divyani Garg, Ayush Agarwal, Ajay Garg, Achal Kumar Srivastava

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Regulation of ClC-2 Chloride Channel Proteostasis by Molecular Chaperones: Correction of Leukodystrophy-Associated Defect by Ssu-Ju Fu, Meng-Chun Hu, Cheng-Tsung Hsiao, An-Ting Cheng, Tsung-Yu Chen, Chung-Jiuan Jeng, Chih-Yung Tang

“…Leukodystrophy-causing ClC-2 mutant channels are associated with anomalous proteostasis manifesting enhanced endoplasmic reticulum (ER)-associated degradation. …”
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Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties by Yuki Miyamoto, Tomohiro Torii, Kazuko Kawahara, Nanami Hasegawa, Akito Tanoue, Yoichi Seki, Takako Morimoto, Megumi Funakoshi-Tago, Hiroomi Tamura, Keiichi Homma, Masahiro Yamamoto, Junji Yamauchi

“…Hypomyelinating leukodystrophy (HLD) is genetic demyelinating or dysmyelinating disease and is associated with at least 13 responsible genes. …”
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Structure and composition of sulfatides isolated from livers of patients with metachromatic leukodystrophy: galactosyl sulfatide and lactosyl sulfatide by Mutsumi Sugita, John T. Dulaney, Hugo W. Moser

“…The livers of four patients with metachromatic leukodystrophy contained galactosyl sulfatide and lactosyl sulfatide, whereas these substances were undetectable in normal human liver. …”
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Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder by Neda Golchin, Mohammadreza Hajjari, Reza Azizi Malamiri, Majid Aminzadeh, Javad Mohammadi-asl

Subjects: “…Metachromatic leukodystrophy disorder…”
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A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy by Hakim Si Ahmed, Ouardia Belarbi, Smail Daoudi, Pierre Labauge, Clarisse Carra-Dalliere, Schmitt Perrine, Sanchez Pauline, Séverine Drunate, Hélène Cavé

Subjects: “…polr3a-related leukodystrophy…”
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Design of a regulated lentiviral vector for hematopoietic stem cell gene therapy of globoid cell leukodystrophy by Silvia Ungari, Annita Montepeloso, Francesco Morena, Fabienne Cocchiarella, Alessandra Recchia, Sabata Martino, Bernhard Gentner, Luigi Naldini, Alessandra Biffi

“…Globoid cell leukodystrophy (GLD) is a demyelinating lysosomal storage disease due to the deficiency of the galactocerebrosidase (GALC) enzyme. …”
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Vitamin K Antagonist Warfarin for Palliative Treatment of Metachromatic Leukodystrophy, A Compassionate Study of Four Subjects by Mitra Assadi, Dah-Jyuu Wang, Kelly Anderson, Melissa Carran, Larissa Bilaniuk, Paola Leone

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Vitamin K Antagonist Warfarin for Palliative Treatment of Metachromatic Leukodystrophy, A Compassionate Study of Four Subjects by Mitra Assadi, Dah-Jyuu Wang, Kelly Anderson, Melissa Carran, Larissa Bilaniuk, Paola Leone

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A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review by Lei Sun, Weihong Lin, Hongmei Meng, Wuqiong Zhang, Shuai Hou

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Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations by Jian Sun, Chao Quan, Su-Shan Luo, Lei Zhou, Chong-Bo Zhao

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Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses by Sebastian Strobel, Naomi Hesse, Vidiyaah Santhanakumaran, Samuel Groeschel, Gernot Bruchelt, Ingeborg Krägeloh-Mann, Judith Böhringer

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Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter by Stephanie Dooves, Prisca S. Leferink, Sander Krabbenborg, Nicole Breeuwsma, Saskia Bots, Anne E.J. Hillen, Gerbren Jacobs, Marjo S. van der Knaap, Vivi M. Heine

“…Summary: Stem cell therapy has great prospects for brain white matter disorders, including the genetically determined disorders called leukodystrophies. We focus on the devastating leukodystrophy vanishing white matter (VWM). …”
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The Role of White Matter Dysfunction and Leukoencephalopathy/Leukodystrophy Genes in the Aetiology of Frontotemporal Dementias: Implications for Novel Approaches to Therapeutics by Hiu Chuen Lok, John B. Kwok

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A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination by Marina R. Carpinelli, Anne K. Voss, Michael G. Manning, Ashwyn A. Perera, Anne A. Cooray, Benjamin T. Kile, Rachel A. Burt

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P340: Kabuki syndrome and metachromatic leukodystrophy, dual diagnosis in a female patient: A case report by Margarita Vazquez Almonte, Jennifer Black, Melissa Byler, Robert Lebel, Nienke Dosa

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Leukodystrophy Associated with Mitochondrial Complex 1 Deficiency Due to Mutation in NUBPL Gene—An Unusual Follow-Up Finding by Babu Peter S, Sree Vandana G

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The therapeutic potential of neural stem/progenitor cells in murine globoid cell leukodystrophy is conditioned by macrophage/microglia activation by Serena Pellegatta, Patrizia Tunici, Pietro Luigi Poliani, Diego Dolcetta, Laura Cajola, Cristina Colombelli, Emilio Ciusani, Stefano Di Donato, Gaetano Finocchiaro

Subjects: “…Leukodystrophy…”
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Generation and characterization of motor neuron progenitors and motor neurons using metachromatic leukodystrophy-induced pluripotent stem cells by Mohammad Arif Hossain, Minami Hasegawa-Ogawa, Yoko Manome, Miki Igarashi, Chen Wu, Ken Suzuki, Junko Igarashi, Takeo Iwamoto, Hirotaka James Okano, Yoshikatsu Eto

“…The pathological consequences leading to primary storage, autophagy impairment, impaired mitochondrial dynamics, and endoplasmic reticulum (ER) stress on neural cell dysfunction and apoptosis in metachromatic leukodystrophy (MLD) have been poorly elucidated. In the present study, we generated 2 cell lines of patient-specific-induced pluripotent stem cells (iPSCs) and modeled the progression of pathological events during the differentiation of iPSCs to motor neuron progenitors (MNPs) and mature motor neurons (MNs). …”
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Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study by Yuta Koto, Wakana Yamashita, Norio Sakai

Subjects: “…Metachromatic Leukodystrophy…”
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