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Page 1
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Mondragón Rezola E, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltrán S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A; GWMD working group. Schlüter A, et al. Neurology. 2022 Mar 1;98(9):e912-e923. doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10. Neurology. 2022. PMID: 35012964 Free PMC article.
We identified variants in 57 different genes among 91 diagnosed cases, with the most frequent being RNASEH2B, EIF2B5, POLR3A, and PLP1, and a dual diagnosis underlying complex phenotypes in 6 families, underscoring the importance of genomic analysis to solve these cases. . …
We identified variants in 57 different genes among 91 diagnosed cases, with the most frequent being RNASEH2B, EIF2B5, POLR3A, and PLP1 …
Pelizaeus-Merzbacher disease: on the cusp of myelin medicine.
Elitt MS, Tesar PJ. Elitt MS, et al. Trends Mol Med. 2024 May;30(5):459-470. doi: 10.1016/j.molmed.2024.03.005. Epub 2024 Apr 5. Trends Mol Med. 2024. PMID: 38582621 Free PMC article. Review.
Pelizaeus-Merzbacher disease (PMD) is caused by mutations in the proteolipid protein 1 (PLP1) gene encoding proteolipid protein (PLP). As a major component of myelin, mutated PLP causes progressive neurodegeneration and eventually death due to severe w …
Pelizaeus-Merzbacher disease (PMD) is caused by mutations in the proteolipid protein 1 (PLP1) gene encoding prot …
Identifying oligodendrocyte enhancers governing Plp1 expression.
Kim D, An H, Fan C, Park Y. Kim D, et al. Hum Mol Genet. 2021 Nov 16;30(23):2225-2239. doi: 10.1093/hmg/ddab184. Hum Mol Genet. 2021. PMID: 34230963 Free PMC article.
Oligodendrocytes (OLs) produce myelin in the central nervous system (CNS), which accelerates the propagation of action potentials and supports axonal integrity. As a major component of CNS myelin, proteolipid protein 1 (Plp1) is indispensable for the a …
Oligodendrocytes (OLs) produce myelin in the central nervous system (CNS), which accelerates the propagation of action potentials and suppor …
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A. Perić S, et al. Cells. 2022 Sep 8;11(18):2804. doi: 10.3390/cells11182804. Cells. 2022. PMID: 36139378 Free PMC article.
A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZYFVE26 (SPG15), REEP1 (SPG31), ATP13A2 (SPG78), DYNC1H1, and BICD2 using a next generation sequencing-based technique. …
A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SP …
One-step Reprogramming of Human Fibroblasts into Oligodendrocyte-like Cells by SOX10, OLIG2, and NKX6.2.
Chanoumidou K, Hernández-Rodríguez B, Windener F, Thomas C, Stehling M, Mozafari S, Albrecht S, Ottoboni L, Antel J, Kim KP, Velychko S, Cui QL, Xu YKT, Martino G, Winkler J, Schöler HR, Baron-Van Evercooren A, Boespflug-Tanguy O, Vaquerizas JM, Ehrlich M, Kuhlmann T. Chanoumidou K, et al. Stem Cell Reports. 2021 Apr 13;16(4):771-783. doi: 10.1016/j.stemcr.2021.03.001. Epub 2021 Mar 25. Stem Cell Reports. 2021. PMID: 33770499 Free PMC article.
Ectopic expression of SOX10, OLIG2, and NKX6.2 in human fibroblasts results in rapid generation of O4(+) cells, which further differentiate into MBP(+) mature oligodendrocyte-like cells within 16 days. dc-hiOLs undergo chromatin remodeling to express oligodendrocyte markers, ensh …
Ectopic expression of SOX10, OLIG2, and NKX6.2 in human fibroblasts results in rapid generation of O4(+) cells, which further differentiate …
PLP1 gene mutations cause spastic paraplegia type 2 in three families.
Yao L, Zhu Z, Zhang C, Tian W, Cao L. Yao L, et al. Ann Clin Transl Neurol. 2023 Mar;10(3):328-338. doi: 10.1002/acn3.51722. Epub 2023 Jan 9. Ann Clin Transl Neurol. 2023. PMID: 36622199 Free PMC article.
OBJECTIVE: Spastic paraplegia type 2 (SPG2) is an X-linked recessive (XLR) form of hereditary spastic paraplegia (HSP) caused by mutations in proteolipid protein 1 (PLP1) gene. We described the clinical and genetic features of three unrelated families …
OBJECTIVE: Spastic paraplegia type 2 (SPG2) is an X-linked recessive (XLR) form of hereditary spastic paraplegia (HSP) caused by mutations i …
Identification of upregulated genes in glioblastoma and glioblastoma cancer stem cells using bioinformatics analysis.
Caglar HO, Duzgun Z. Caglar HO, et al. Gene. 2023 Jan 10;848:146895. doi: 10.1016/j.gene.2022.146895. Epub 2022 Sep 16. Gene. 2023. PMID: 36122609
Subsequently, a protein-protein interaction network was constructed for upregulated genes through STRING, in which DUSP6, FGFR3, EGFR, SOX2, NES, and PLP1 were further identified as hub genes via MCC and MNC methods. Expression profiles of hub genes and their association w …
Subsequently, a protein-protein interaction network was constructed for upregulated genes through STRING, in which DUSP6, FGFR3, EGFR, SOX2, …
Single-Nucleus Landscape of Glial Cells and Neurons in Alzheimer's Disease.
Lu M, Li J, Huang Q, Mao D, Yang G, Lan Y, Zeng J, Pan M, Shi S, Zou D. Lu M, et al. Mol Neurobiol. 2025 Mar;62(3):2695-2709. doi: 10.1007/s12035-024-04428-6. Epub 2024 Aug 17. Mol Neurobiol. 2025. PMID: 39153159
Our findings revealed increased abundance of Capping Protein Regulator And Myosin 1 linker 1 (CARMIL1)(+) astrocytes (AST), Immunoglobulin Superfamily Member 21 (IGSF21)(+) microglia (MIC), SRY-Box Transcription Factor 6 (SOX6)(+) inhibitory neurons (InNeu), and laminin alpha-2 c …
Our findings revealed increased abundance of Capping Protein Regulator And Myosin 1 linker 1 (CARMIL1)(+) astrocytes (AST), Immunoglobulin S …
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Di Bella D, Magri S, Benzoni C, Farina L, Maccagnano C, Sarto E, Moscatelli M, Baratta S, Ciano C, Piacentini SHMJ, Draghi L, Mauro E, Pareyson D, Gellera C, Taroni F, Salsano E. Di Bella D, et al. Eur J Neurol. 2021 Mar;28(3):934-944. doi: 10.1111/ene.14646. Epub 2020 Dec 3. Eur J Neurol. 2021. PMID: 33190326
Duplication of a large chromosome X region encompassing PLP1 and a pathogenic GJC2 variant were found in two patients, both females, with early-onset HLDs persisting into adulthood. ...
Duplication of a large chromosome X region encompassing PLP1 and a pathogenic GJC2 variant were found in two patients, both females, …
Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review.
Xu HH, Zhang Y, He ZH, Di XH, Pan FY, Shi WW. Xu HH, et al. BMC Med Genomics. 2023 May 22;16(1):111. doi: 10.1186/s12920-023-01547-2. BMC Med Genomics. 2023. PMID: 37217926 Free PMC article. Review.
This deletion encompasses 7 known morbid genes: TIMM8A, BTK, GLA, HNRNPH2, GPRASP2, PLP1, and SERPINA7. In addition, the parents have a normal phenotype and are of normal intelligence. ...
This deletion encompasses 7 known morbid genes: TIMM8A, BTK, GLA, HNRNPH2, GPRASP2, PLP1, and SERPINA7. In addition, the parents have …
36 results