| Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants. | Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Poncet AF, Grunewald O, Vaclavik V, Meunier I, Drumare I, Pelletier V, Bocquet B, Todorova MG, Le Moing AG, Devos A, Schorderet DF, Jobic F, Defoort-Dhellemmes S, Dollfus H, Smirnov VM, Dhaenens CM., Free PMC Article | 04/30/2022 |
| A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability. | A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
Reith M, Zeltner L, Schäferhoff K, Witt D, Zuleger T, Haack TB, Bornemann A, Alber M, Ruf S, Schoels L, Stingl K, Weisschuh N., Free PMC Article | 03/26/2022 |
| Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. | Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Lopez-Fabuel I, Garcia-Macia M, Buondelmonte C, Burmistrova O, Bonora N, Alonso-Batan P, Morant-Ferrando B, Vicente-Gutierrez C, Jimenez-Blasco D, Quintana-Cabrera R, Fernandez E, Llop J, Ramos-Cabrer P, Sharaireh A, Guevara-Ferrer M, Fitzpatrick L, Thompton CD, McKay TR, Storch S, Medina DL, Mole SE, Fedichev PO, Almeida A, Bolaños JP., Free PMC Article | 02/19/2022 |
| Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China. | Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China.
Huang L, Liu Z, Yuan Y, Shen L, Jiang H, Tang B, Wang J, Lei L. | 07/24/2021 |
| that MFSD8-associated lysosomal dysfunction may contribute to frontotemporal lobar degeneration pathology | Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
Geier EG, Bourdenx M, Storm NJ, Cochran JN, Sirkis DW, Hwang JH, Bonham LW, Ramos EM, Diaz A, Van Berlo V, Dokuru D, Nana AL, Karydas A, Balestra ME, Huang Y, Russo SP, Spina S, Grinberg LT, Seeley WW, Myers RM, Miller BL, Coppola G, Lee SE, Cuervo AM, Yokoyama JS., Free PMC Article | 03/28/2020 |
| Here and for the first time, we reported on two previously variant late-infantile neuronal ceroid lipofuscinoses-associated variants in MFSD8 but in association with a form of cone-rod dystrophy known as non-syndromic macular dystrophy with central cone involvement. | MFSD8 gene mutations; evidence for phenotypic heterogeneity.
Zare-Abdollahi D, Bushehri A, Alavi A, Dehghani A, Mousavi-Mirkala M, Effati J, Miratashi SAM, Dehani M, Jamali P, Khorram Khorshid HR. | 03/14/2020 |
| We identified a novel homozygous mutation in MFSD8 gene. | A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
Kozina AA, Okuneva EG, Baryshnikova NV, Krasnenko AY, Tsukanov KY, Klimchuk OI, Kondakova OB, Larionova AN, Batysheva TT, Surkova EI, Shatalov PA, Ilinsky VV., Free PMC Article | 04/20/2019 |
| Quantification revealed that the amounts of 12 different soluble lysosomal proteins were significantly reduced in Cln7 ko MEFs compared with wild-type controls. One of the most significantly depleted lysosomal proteins was Cln5 protein that underlies another distinct neuronal ceroid lipofuscinosis disorder | Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.
Danyukova T, Ariunbat K, Thelen M, Brocke-Ahmadinejad N, Mole SE, Storch S., Free PMC Article | 02/16/2019 |
| This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease. | Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
Khan KN, El-Asrag ME, Ku CA, Holder GE, McKibbin M, Arno G, Poulter JA, Carss K, Bommireddy T, Bagheri S, Bakall B, Scholl HP, Raymond FL, Toomes C, Inglehearn CF, Pennesi ME, Moore AT, Michaelides M, Webster AR, Ali M, for NIHR BioResource-Rare Diseases and UK Inherited Retinal Disease Consortium. | 07/22/2017 |
| MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 mutation | Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
Craiu D, Dragostin O, Dica A, Hoffman-Zacharska D, Gos M, Bastian AE, Gherghiceanu M, Rolfs A, Nahavandi N, Craiu M, Iliescu C. | 04/2/2016 |
| A mutation in MFSD8, c.472G>A (p.Gly158Ser), segregates with the disease phenotype in variant late infantile neuronal ceroid lipofuscinosis. | Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.
Mandel H, Cohen Katsanelson K, Khayat M, Chervinsky I, Vladovski E, Iancu TC, Indelman M, Horovitz Y, Sprecher E, Shalev SA, Spiegel R. | 07/25/2015 |
| In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement. | Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB. | 03/21/2015 |
| This study showed that Gene disruption of Mfsd8 provides animal model for CLN7 disease. | Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease.
Damme M, Brandenstein L, Fehr S, Jankowiak W, Bartsch U, Schweizer M, Hermans-Borgmeyer I, Storch S. | 11/22/2014 |
| Expression and lysosomal targeting of CLN7 are reported. | Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.
Sharifi A, Kousi M, Sagné C, Bellenchi GC, Morel L, Darmon M, Hulková H, Ruivo R, Debacker C, El Mestikawy S, Elleder M, Lehesjoki AE, Jalanko A, Gasnier B, Kyttälä A., Free PMC Article | 02/26/2011 |
| Data show that neuronal ceroid lipofuscinosis in a Saudi family is due to a homozygous novel mutation in the most recently described NCL gene (MFSD8). | Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS. | 01/21/2010 |
| Results describe a novel mutation in the MFSD8 gene, responsible for neuronal ceroid lipofuscinoses, in a consanguineous Egyptian family | A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.
Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom TM, Zimprich A. | 01/21/2010 |
| CLN7/MFSD8 defects are not restricted to the Turkish population, as initially anticipated, but are a relatively common cause of NCL in different populations. | Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE. | 01/21/2010 |
| Study contributes to a better molecular characterization of Italian NCL cases, and will facilitate medical genetic counseling in such families. | Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM. | 01/21/2010 |
| MFSD8 gene is involved in late-infantile-onset neuronal ceroid lipofuscinose;it was mapped to chromosome 4q28.1-q28.2. | The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE., Free PMC Article | 01/21/2010 |