| Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families. | Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.
Ilyas M, Tariq F, Ishaq R, Habiba U, Bibi F, Khan SN, Ali Y, Haider S, Efthymiou S, Abdullah U, Raja GK, Shaiq PA. | 03/20/2024 |
| Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience. | Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Badilla-Porras R, Echeverri-McCandless A, Weimer JM, Ulate-Campos A, Soto-Rodríguez A, Gutiérrez-Mata A, Hernández-Con L, Bogantes-Ledezma S, Balmaceda-Meza A, Brudvig J, Sanabria-Castro A., Free PMC Article | 03/19/2022 |
| CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses. | CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses.
Shiro Y, Yamashita A, Watanabe K, Yamazaki T. | 01/22/2022 |
| p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis. | p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis.
Onodera M, Tsujimoto S, Doi S, Yamashita A, Yamazaki T, Makifuchi T, Inazu T. | 12/11/2021 |
| Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses. | Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses.
Yamashita A, Shiro Y, Hiraki Y, Yujiri T, Yamazaki T. | 12/12/2020 |
| The CLN6 protein associates with the CLN8 protein to form the EGRESS complex (ER-to-Golgi Relaying of Enzymes of the lySosomal System), which mediates ER exit and Golgi transfer of newly synthesized lysosomal enzymes. The second luminal loop of CLN6 is required for the interaction of CLN6 with the enzymes. Loss-of-function mutations in CLN6 affect enzyme trafficking and result in lower levels of enzymes at the lysosome. | A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.
Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M., Free PMC Article | 07/13/2020 |
| compound heterozygous mutations of CLN6:c.486+2T>C and c.486+4A>T are possibly the genetic causes of the autosomal recessive neuronal ceroid lipofuscinoses | [Genetic study of a family of neuronal ceroid lipofuscinosis caused by a heterozygous mutation of CLN6 gene].
Lou T, Huang Y, Dong M., Free PMC Article | 01/11/2020 |
| Clinical distinction of type A (progressive myoclonus epilepsy) and type B (dementia with motor disturbance) Kufs disease was supported by molecular diagnoses. Type A is usually caused by recessive pathogenic variants in CLN6 or dominant variants in DNAJC5. Type B Kufs is usually associated with recessive CTSF pathogenic variants. | Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. | 08/24/2019 |
| Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment | Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.
Chin JJ, Behnam B, Davids M, Sharma P, Zein WM, Wang C, Chepa-Lotrea X, Gallantine WB, Toro C, Adams DR, Tifft CJ, Gahl WA, Malicdan MCV. | 08/10/2019 |
| The CLN6 is not only a molecular entity of the anti-aggregate activity conferred by the ER manipulation using TMalphaBC, but also serves as a potential target of therapeutic interventions. | Identification of CLN6 as a molecular entity of endoplasmic reticulum-driven anti-aggregate activity.
Yamashita A, Hiraki Y, Yamazaki T. | 10/7/2017 |
| describe the spectrum of clinical and neurophysiologic features associated with mutations of CLN6. | Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S., Free PMC Article | 11/7/2015 |
| study demonstrates the central role of the metal transporter, Zip7, in the aberrant biometal metabolism of CLN6 variants of Neuronal ceroid lipofuscinoses. | Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder.
Grubman A, Lidgerwood GE, Duncan C, Bica L, Tan JL, Parker SJ, Caragounis A, Meyerowitz J, Volitakis I, Moujalled D, Liddell JR, Hickey JL, Horne M, Longmuir S, Koistinaho J, Donnelly PS, Crouch PJ, Tammen I, White AR, Kanninen KM., Free PMC Article | 12/20/2014 |
| The study describes the first report in the North of Morocco of the CLN6 p.I154del mutation in 3 patients belonging to a large consanguineous family. | CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.
Bouhouche A, Regragui W, El Fahime E, Bouslam N, Tazi-Ahnini R, Melloul M, Benomar A, Yahyaoui M. | 04/19/2014 |
| our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy | Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy.
Andrade DM, Paton T, Turnbull J, Marshall CR, Scherer SW, Minassian BA. | 12/29/2012 |
| CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival. | Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.
Cao Y, Staropoli JF, Biswas S, Espinola JA, MacDonald ME, Lee JM, Cotman SL., Free PMC Article | 09/3/2011 |
| Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy. | Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF., Free PMC Article | 08/20/2011 |
| Expression studies of three mutations found in CLN6 patients predicted to affect transmembrane domain 3, cytoplasmic loop 2 or result in a truncated membrane protein respectively, is reported. | Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.
Kurze AK, Galliciotti G, Heine C, Mole SE, Quitsch A, Braulke T. | 05/3/2010 |
| three families with CLN6-associated variant late infantile neuronal ceroid lipofuscinosis from Saudi Arabia are described; one had a novel mutation in the CLN6 gene | Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.
Al-Muhaizea MA, Al-Hassnan ZN, Chedrawi A. | 01/21/2010 |
| knockdown of SEL1L [sel-1 suppressor of lin-12-like (Caenorhabditis elegans)], a member of an E3 ubiquitin ligase complex involved in ER protein extraction, rescued significant amounts of Cln6(G123D) and Cln6(M241T) polypeptides. | Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner.
Oresic K, Mueller B, Tortorella D., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | 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. | 03/25/2009 |
| 11 mutations in patients with neuronal ceroid lipofuscinoses, eight of which are novel, were detected in CLN6, all predicting a direct impairing of the putative gene function. | Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM. | 01/21/2010 |
| Cholesterol accumulation in lysosomes suggests a homeostasis block as a result of CLN6p deficiency, while dysfunctional endosomal/lysosomal vesicles may act as one of the triggers for apoptosis and cell death. | Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology.
Teixeira CA, Lin S, Mangas M, Quinta R, Bessa CJ, Ferreira C, Sá Miranda MC, Boustany RM, Ribeiro MG. | 01/21/2010 |
| ER-resident CLN6 protein lead to lysosomal dysfunctions, which may result in lysosomal accumulation of storage material | Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A.
Heine C, Koch B, Storch S, Kohlschütter A, Palmer DN, Braulke T. | 01/21/2010 |
| CLN6 maintains its endoplasmic reticulum localization by expressing retention signals present in both the N-terminal cytosolic domain and in the carboxy-proximal transmembrane domains 6 and 7. | Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.
Heine C, Quitsch A, Storch S, Martin Y, Lonka L, Lehesjoki AE, Mole SE, Braulke T. | 01/21/2010 |
| These data indicate that CLN6 mutations, in addition to those of CLN8, should be considered a diagnostic alternative in Turkish variant late-infantile neuronal ceroid lipofuscinosis patients. | Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
Siintola E, Topcu M, Kohlschütter A, Salonen T, Joensuu T, Anttonen AK, Lehesjoki AE. | 01/21/2010 |