P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy by Makenzie Fulmer, Matt Velinder, Ashley Andrews, Russell Butterfield, Rong Mao, Kourtney Santucci, Lorenzo Botto, Pinar Bayrak-Toydemir

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POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience by Jing Liu, Jing Liu, Yue Niu, Yue Niu, Jiong Qin, Jiong Qin, Zhixian Yang, Zhixian Yang

Subjects: “…POLR3-related leukodystrophy…”
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Delayed Clinical and Pathological Signs in Twitcher (Globoid Cell Leukodystrophy) Mice on a C57BL/6 × CAST/Ei Background by Sangita Biswas, Homigol Biesiada, Todd D. Williams, Steven M. LeVine

“…Modifier genes may account for the phenotypic variability observed in the late-onset forms of globoid cell leukodystrophy (GCL) in humans. In order to begin a search for modifier genes, the effect of genetic background on the clinical and pathological manifestations of GCL was investigated in twitcher mice. …”
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Four novel <em>ARSA</em> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations by Manshadi, M.D., Kamalidehghan, B., Aryani, O., Khalili, E., Dadgar, S., Tondar, M., Ahmadipour, F., Meng, G.Y., Houshmand, M.

“…Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. …”

Case Report: Neuro-Imaging Findings in Ataxia Telangiectasia by Farhad Mahvelati, Seyyed Hossein Tonekaboni

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Infantile Onset Alexander Disease with Normal Head Circumference: A Genetically Proven Case Report by Manisha Goyal, Sumit Mehndiratta, Mohammed Faruq, Manish Kumar Dwivedi, Seema Kapoor

Subjects: “…leukodystrophy…”
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Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder by Marianna Alagia, Gerarda Cappuccio, Annalaura Torella, Alessandra D'Amico, Federica Mazio, Alfonso Romano, Simona Fecarotta, Giorgio Casari, Vincenzo Nigro, TUDP, Nicola Brunetti‐Pierri

Subjects: “…leukodystrophy…”
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Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry[S] by Mina Mirzaian, Gertjan Kramer, Ben J.H.M. Poorthuis

Subjects: “…metachromatic leukodystrophy…”
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Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD) by Wing C. Lee, Yuen K. Tsoi, Chad A. Dickey, Michael W. DeLucia, Dennis W. Dickson, Christopher B. Eckman

“…The twitcher mouse is a pathologically and enzymatically authentic model of globoid cell leukodystrophy (GLD, Krabbe disease) that has been widely used for the evaluation of potential therapeutic approaches. …”
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Lentivector Integration Sites in Ependymal Cells From a Model of Metachromatic Leukodystrophy: Non-B DNA as a New Factor Influencing Integration by Robert G McAllister, Jiahui Liu, Matthew W Woods, Sean K Tom, C Anthony Rupar, Stephen D Barr

“…The blood–brain barrier controls the passage of molecules from the blood into the central nervous system (CNS) and is a major challenge for treatment of neurological diseases. Metachromatic leukodystrophy is a neurodegenerative lysosomal storage disease caused by loss of arylsulfatase A (ARSA) activity. …”
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Hypomyelinating Leukodystrophy 10 (HLD10)-Associated Mutations of PYCR2 Form Large Size Mitochondria, Inhibiting Oligodendroglial Cell Morphological Differentiation by Tomohiro Torii, Remina Shirai, Risa Kiminami, Satoshi Nishino, Takanari Sato, Sui Sawaguchi, Nana Fukushima, Yoichi Seki, Yuki Miyamoto, Junji Yamauchi

“…Hypomyelinating leukodystrophy 10 (HLD10) is an autosomal recessive disease related to myelin sheaths in the central nervous system (CNS). …”
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Lipidomic analysis identifies age-disease-related changes and potential new biomarkers in brain-derived extracellular vesicles from metachromatic leukodystrophy mice by Melissa R. Pergande, Christina Kang, Diann George, Pearl A. Sutter, Stephen J. Crocker, Stephanie M. Cologna, Maria I. Givogri

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In Silico Structural Modeling and Binding Site Analysis of Cerebroside Sulfotransferase (CST): A Therapeutic Target for Developing Substrate Reduction Therapy for Metachromatic Leukodystrophy by Nivedita Singh, Anil Kumar Singh

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The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis by Karine Choquet, Maxime Pinard, Sharon Yang, Robyn D. Moir, Christian Poitras, Marie-Josée Dicaire, Nicolas Sgarioto, Roxanne Larivière, Claudia L. Kleinman, Ian M. Willis, Marie-Soleil Gauthier, Benoit Coulombe, Bernard Brais

Subjects: “…Leukodystrophy…”
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Hypomyelinating Leukodystrophy 7 (HLD7)-Associated Mutation of POLR3A Is Related to Defective Oligodendroglial Cell Differentiation, Which Is Ameliorated by Ibuprofen by Sui Sawaguchi, Kenji Tago, Hiroaki Oizumi, Katsuya Ohbuchi, Masahiro Yamamoto, Kazushige Mizoguchi, Yuki Miyamoto, Junji Yamauchi

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A homozygous mutation of alanyl‐transfer RNA synthetase 2 in a patient of adult‐onset leukodystrophy: A case report and literature review by Jian‐Yong Wang, Song‐Fang Chen, Hong‐Qiu Zhang, Meng‐Yan Wang, Jian‐Hong Zhu, Xiong Zhang

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Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI by Noortje J. M. L. Buermans, Sharon J. G. van den Bosch, Irene C. Huffnagel, Marjan E. Steenweg, Marc Engelen, Kim J. Oostrom, Gert J. Geurtsen

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Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen by Sui Sawaguchi, Rimi Suzuki, Hiroaki Oizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Masahiro Yamamoto, Yuki Miyamoto, Junji Yamauchi

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Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H by Maxime Pinard, Samaneh Dastpeyman, Christian Poitras, Geneviève Bernard, Marie-Soleil Gauthier, Benoit Coulombe

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CUL4-DDB1-CRBN E3 Ubiquitin Ligase Regulates Proteostasis of ClC-2 Chloride Channels: Implication for Aldosteronism and Leukodystrophy by Ssu-Ju Fu, Meng-Chun Hu, Yi-Jheng Peng, Hsin-Yu Fang, Cheng-Tsung Hsiao, Tsung-Yu Chen, Chung-Jiuan Jeng, Chih-Yung Tang

“…Analyses of disease-related ClC-2 mutants reveal that aldosteronism and leukodystrophy are associated with opposite alterations in ClC-2 proteostasis. …”
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