| Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes. | Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Neri S, Maia N, Fortuna AM, Damasio J, Coale E, Willis M, Jorge P, Højte AF, Fenger CD, Møller RS, Bayat A. | 10/22/2022 |
| SPG8 mutations in Italian families: clinical data and literature review. | SPG8 mutations in Italian families: clinical data and literature review.
Ginanneschi F, D'Amore A, Barghigiani M, Tessa A, Rossi A, Santorelli FM. | 12/5/2020 |
| clinical phenotype of the c.1771T>C mutation of KIAA0196 has a considerable heterogeneity and this mutation may be a common pathogenic site of KIAA0196 mutations among Chinese patients with hereditary spastic paraplegia | [Analysis of KIAA0196 gene mutation in a family with hereditary spastic paraplegia].
Li G, Qing Y, Yang X, Lou J, Hu X, Yang C, Zhang J, He L, Li J, Wan C. | 08/17/2019 |
| A novel missense mutation was identified in the KIAA0196 gene in a Japanese patient with SPG8. | Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8.
Ichinose Y, Koh K, Fukumoto M, Yamashiro N, Kobayashi F, Miwa M, Nagasaka T, Shindo K, Ishiura H, Tsuji S, Takiyama DY. | 01/14/2017 |
| A mutation in the WASH component KIAA0196 (strumpellin) is associated with hypercholesterolaemia in humans. | CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
Bartuzi P, Billadeau DD, Favier R, Rong S, Dekker D, Fedoseienko A, Fieten H, Wijers M, Levels JH, Huijkman N, Kloosterhuis N, van der Molen H, Brufau G, Groen AK, Elliott AM, Kuivenhoven JA, Plecko B, Grangl G, McGaughran J, Horton JD, Burstein E, Hofker MH, van de Sluis B., Free PMC Article | 07/30/2016 |
| Study found a novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. | A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.
Wang X, Yang Y, Wang X, Li C, Jia J. | 04/11/2015 |
| To identify the underlying genetic cause of Ritscher-Schinzel syndrome, affected individuals from a First Nations community in Manitoba underwent mutational analysis. All eight patients were homozygous for a novel splice site mutation in KIAA0196. | A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
Elliott AM, Simard LR, Coghlan G, Chudley AE, Chodirker BN, Greenberg CR, Burch T, Ly V, Hatch GM, Zelinski T. | 06/7/2014 |
| we identified a novel KIAA0196 missense variant in the proband and her daughter expanding the clinical spectrum of hereditary spastic paraplegia 8. | Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
Bettencourt C, Morris HR, Singleton AB, Hardy J, Houlden H., Free PMC Article | 03/29/2014 |
| We have identified a fourth pathogenic KIAA0196 mutation in a Dutch hereditary spastic paraplegia family, the seventh family worldwide, with a less severe clinical course than described before. | Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
de Bot ST, Vermeer S, Buijsman W, Heister A, Voorendt M, Verrips A, Scheffer H, Kremer HP, van de Warrenburg BP, Kamsteeg EJ. | 02/22/2014 |
| Strumpellin disease mutations do not affect its incorporation into the WASH complex or its subcellular localisation. | The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.
Freeman C, Seaman MN, Reid E., Free PMC Article | 03/9/2013 |
| strumpellin is a ubiquitously expressed protein present in cytosolic and endoplasmic reticulum cell fractions. In the human central nervous system strumpellin shows a presynaptic localization. | Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
Clemen CS, Tangavelou K, Strucksberg KH, Just S, Gaertner L, Regus-Leidig H, Stumpf M, Reimann J, Coras R, Morgan RO, Fernandez MP, Hofmann A, Müller S, Schoser B, Hanisch FG, Rottbauer W, Blümcke I, von Hörsten S, Eichinger L, Schröder R. | 10/23/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| WAFL may play an important role in endocytosis and subsequent membrane trafficking by interacting with AP2 through KIAA0196 and KIAA1033 | The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis.
Pan YF, Viklund IM, Tsai HH, Pettersson S, Maruyama IN., Free PMC Article | 06/28/2010 |
| The expression of KIAA0196 at chromosomal region 8q24 is significantly higher in prostate carcinomas with gene amplification than in those without it. | RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer.
Porkka KP, Tammela TL, Vessella RL, Visakorpi T. | 01/21/2010 |
| Identified three mutations in the KIAA0196 gene in six families that map to the SPG8 locus. The identification and characterization of the KIAA0196 gene will enable further insight into the pathogenesis of HSP. | Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA., Free PMC Article | 01/21/2010 |