| Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes. | Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes.
Brignone MS, Lanciotti A, Molinari P, Mallozzi C, De Nuccio C, Caprini ES, Petrucci TC, Visentin S, Ambrosini E. | 06/26/2024 |
| MLC1 Overexpression Inhibits Tumor Progression through PI3K/AKT Signal Pathway in Prostate Cancer. | MLC1 Overexpression Inhibits Tumor Progression through PI3K/AKT Signal Pathway in Prostate Cancer.
Wu Z, Ni J, Zhang H, Zhang Y, Lv C, Wang Y, Wang K, Peng B. | 01/26/2024 |
| Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families. | Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.
Khalaf-Nazzal R, Dweikat I, Maree M, Alawneh M, Barahmeh M, Doulani RT, Qrareya M, Qadi M, Dudin A. | 06/11/2022 |
| A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration. | A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.
Ain Ul Batool S, Almatrafi A, Fadhli F, Alluqmani M, Sadia, Ali G, Basit S. | 04/23/2022 |
| Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1. | Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1.
Hwang J, Park K, Lee GY, Yoon BY, Kim H, Roh SH, Lee BC, Kim K, Lim HH., Free PMC Article | 03/5/2022 |
| Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies. | Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.
Elorza-Vidal X, Xicoy-Espaulella E, Pla-Casillanis A, Alonso-Gardón M, Gaitán-Peñas H, Engel-Pizcueta C, Fernández-Recio J, Estévez R., Free PMC Article | 08/7/2021 |
| Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes. | Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes.
Lanciotti A, Brignone MS, Belfiore M, Columba-Cabezas S, Mallozzi C, Vincentini O, Molinari P, Petrucci TC, Visentin S, Ambrosini E., Free PMC Article | 03/6/2021 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) promotes glioblastoma cell invasion in the brain microenvironment. | Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) promotes glioblastoma cell invasion in the brain microenvironment.
Lattier JM, De A, Chen Z, Morales JE, Lang FF, Huse JT, McCarty JH., Free PMC Article | 02/27/2021 |
| misallocation of pathogenic mutant MLC1 may disturbs the stable cell-cell communication and the homeostatic regulation of astrocytes in patients with Megalencephalic leukoencephalopathy with subcortical cysts. | Plasma membrane localization of MLC1 regulates cellular morphology and motility.
Hwang J, Vu HM, Kim MS, Lim HH., Free PMC Article | 07/11/2020 |
| Novel and deleterious variants in VPS53, GLB1, and MLC1, genes previously associated with variable neurodevelopmental anomalies, were found to segregate with intellectual disabilities in the three families. | Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
Ilyas M, Efthymiou S, Salpietro V, Noureen N, Zafar F, Rauf S, Mir A, Houlden H., Free PMC Article | 05/9/2020 |
| MLC1 contributes to restore astrocyte homeostasis after inflammation. | Megalencephalic Leukoencephalopathy with Subcortical Cysts Protein-1 (MLC1) Counteracts Astrocyte Activation in Response to Inflammatory Signals.
Brignone MS, Lanciotti A, Serafini B, Mallozzi C, Sbriccoli M, Veroni C, Molinari P, Elorza-Vidal X, Petrucci TC, Estévez R, Ambrosini E. | 04/4/2020 |
| The frequency of MLC1 c.736delA in multiple families with similar disease phenotype from the Nalband community suggests a founder effect. | A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts-1 in north Indian kindred.
Vellarikkal SK, Jayarajan R, Verma A, Ravi R, Senthilvel V, Kumar A, Saini L, Gulati S, Lal M, Mathur A, Chhetri MK, Faruq M, Scaria V, Sivasubbu S. | 11/16/2019 |
| Disturbed astrocyte regulation of ion and water homeostasis in MLC causes hyperexcitability of neuronal networks and seizures | Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.
Dubey M, Brouwers E, Hamilton EMC, Stiedl O, Bugiani M, Koch H, Kole MHP, Boschert U, Wykes RC, Mansvelder HD, van der Knaap MS, Min R., Free PMC Article | 08/3/2019 |
| three overlapping genes (FGFBP2, GFOD1 and MLC1) between two modules could potentially have a role in acute myocardial infarction and have diagnostic potential | Potential biomarkers of acute myocardial infarction based on weighted gene co-expression network analysis.
Liu Z, Ma C, Gu J, Yu M., Free PMC Article | 07/6/2019 |
| Three different MLC1 pathogenic variants from five MLC patients with seven alleles contained the p.Ala275Asp variant in exon 10, two frameshift variants p.(Cys46Alafs*12) and p.(Ile113Glyfs*4) were also identified. | A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.
Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC., Free PMC Article | 05/12/2018 |
| Novel mutations were identified in MLC1 from a group of Egyptian patients with megalencephalic leukoencephalopathy. | Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.
Abdel-Salam GM, Abdel-Hamid MS, Ismail SI, Hosny H, Omar T, Effat L, Aglan MS, Temtamy SA, Zaki MS. | 01/13/2018 |
| Out of 20 patients, macrocephaly, classic MRI features, motor development delay and cognitive impairment were detected in 20(100%), 20(100%), 17(85%) and 4(20%) patients, respectively. 20(100%) were clinically diagnosed with MLC. 19(95%) were genetically diagnosed with 10 novel mutations in MLC1, MLC1 and GlialCAM mutations were identified in 15 and 4 patients, respectively | Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.
Cao B, Yan H, Guo M, Xie H, Wu Y, Gu Q, Xiao J, Shang J, Yang Y, Xiong H, Niu Z, Wu X, Jiang Y, Wang J., Free PMC Article | 07/22/2017 |
| Study discloses an important role for MLC1 in the control of astrocyte growth and in the regulation of pathways that trigger quiescent astrocytes into reactive ones in response to brain injury. It also shows that MLC1 pathological mutations cause loss of its function, opening new perspectives for the comprehension of MLC disease pathogenesis. | Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.
Lanciotti A, Brignone MS, Visentin S, De Nuccio C, Catacuzzeno L, Mallozzi C, Petrini S, Caramia M, Veroni C, Minnone G, Bernardo A, Franciolini F, Pessia M, Bertini E, Petrucci TC, Ambrosini E. | 12/17/2016 |
| The extracellular domain of GlialCAM is necessary for cell junction targeting and for mediating interactions with itself or with MLC1 and ClC-2. | Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy.
Capdevila-Nortes X, Jeworutzki E, Elorza-Vidal X, Barrallo-Gimeno A, Pusch M, Estévez R., Free PMC Article | 06/28/2016 |
| Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts | Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
Kariminejad A, Rajaee A, Ashrafi MR, Alizadeh H, Tonekaboni SH, Malamiri RA, Ghofrani M, Karimzadeh P, Mohammadi MM, Baghalshooshtari A, Bozorgmehr B, Kariminejad MH, Postma N, Abbink TE, van der Knaap MS. | 12/5/2015 |
| Gene sequencing identified two heterozygous mutations of MLC1, including missense mutation in exon 3 (c.217G>A, p.Gly73Arg) and splice site mutation in intron 9 (c.772-1G>C in IVS9-1). | [Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].
Zhu LN, Ma XW, Zheng T, He F, Feng ZC. | 08/22/2015 |
| we demonstrate an evolutionary conserved role for MLC1 in regulating glial surface levels of GLIALCAM, and this interrelationship explains why patients with mutations in either gene (MLC1 or GLIALCAM) share the same clinical phenotype. | Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
Sirisi S, Folgueira M, López-Hernández T, Minieri L, Pérez-Rius C, Gaitán-Peñas H, Zang J, Martínez A, Capdevila-Nortes X, De La Villa P, Roy U, Alia A, Neuhauss S, Ferroni S, Nunes V, Estévez R, Barrallo-Gimeno A. | 05/30/2015 |
| This study shows that in astrocytes MLC1 is expressed in early endosomes and recycled through the Rab11+ perinuclear compartment | Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis.
Brignone MS, Lanciotti A, Visentin S, De Nuccio C, Molinari P, Camerini S, Diociaiuti M, Petrini S, Minnone G, Crescenzi M, Laudiero LB, Bertini E, Petrucci TC, Ambrosini E., Free PMC Article | 09/27/2014 |
| clinical spectrum, neuroimaging characteristics and gene involvement in Egyptian patients with megalencephalic leukoencephalopathy with subcortical cysts; deletion/insertion mutation in exon 11 was recurrent in 2 families; a missense mutation in exon 10 was identified in the third family | Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.
Mahmoud IG, Mahmoud M, Refaat M, Girgis M, Waked N, El Badawy A, Selim L, Hassan S, Abdel Aleem AK. | 09/20/2014 |
| results indicate GlialCAM is necessary for MLC1 protein expression, and its reduction affects the activity of volume-regulated anion currents (VRAC) which may cause astrocyte vacuolation; work extends the role of GlialCAM as a chaperone of MLC1 needed for proper VRAC activation | Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.
Capdevila-Nortes X, López-Hernández T, Apaja PM, López de Heredia M, Sirisi S, Callejo G, Arnedo T, Nunes V, Lukacs GL, Gasull X, Estévez R. | 05/3/2014 |