| Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. | Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H, Genomics England Research Consortium., Free PMC Article | 01/14/2023 |
| De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. | De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S, PREPARE Consortium, Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J., Free PMC Article | 06/25/2022 |
| alpha-Fodrin in Cytoskeletal Organization and the Activity of Certain Key Microtubule Kinesins. | α-Fodrin in Cytoskeletal Organization and the Activity of Certain Key Microtubule Kinesins.
Sreeja JS, Jyothy A, Sengupta S., Free PMC Article | 08/28/2021 |
| Expression and secretion of the proinflammatory cytokine IL8 is increased in colorectal cancer cells following the knockdown of nonerythroid spectrin alphaII. | Expression and secretion of the pro‑inflammatory cytokine IL‑8 is increased in colorectal cancer cells following the knockdown of non‑erythroid spectrin αII.
Ackermann A, Lafferton B, Plotz G, Zeuzem S, Brieger A. | 01/23/2021 |
| Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy. | Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.
Terrone G, Pinelli M, Bernardo P, Parrini E, Imperati F, Brunetti-Pierri N, Del Giudice E. | 01/16/2021 |
| alpha-Fodrin is required for the organization of functional microtubules during mitosis. | α-Fodrin is required for the organization of functional microtubules during mitosis.
Nellikka RK, Sreeja JS, Dharmapal D, John R, Monteiro A, Macedo JC, Conde C, Logarinho E, Sunkel CE, Sengupta S., Free PMC Article | 09/19/2020 |
| Patients with nonsense mutations in SPTAN1 were identified, in hereditary motor neuropathy families. | Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
Beijer D, Deconinck T, De Bleecker JL, Dotti MT, Malandrini A, Urtizberea JA, Zulaica M, López de Munain A, Asselbergh B, De Jonghe P, Baets J. | 05/16/2020 |
| The 150-kDa (calpain-mediated) cleavage product of SPTAN1 was significantly increased in ischemic and nonischemic heart failure. | Defining new mechanistic roles for αII spectrin in cardiac function.
Lubbers ER, Murphy NP, Musa H, Huang CY, Gupta R, Price MV, Han M, Daoud E, Gratz D, El Refaey M, Xu X, Hoeflinger NK, Friel EL, Lancione P, Wallace MJ, Cavus O, Simmons SL, Williams JL, Skaf M, Koenig SN, Janssen PML, Rasband MN, Hund TJ, Mohler PJ., Free PMC Article | 02/29/2020 |
| Our results further suggest that SPTAN1 may cause autosomal recessive hereditary spastic paraplegia (HSP), and that it should be included in genetic screening panels for genetically undiagnosed HSP patients. | SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.
Leveille E, Estiar MA, Krohn L, Spiegelman D, Dionne-Laporte A, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z. | 02/8/2020 |
| Compared with the surrounding normal mucosa, SPTAN1 expression was reduced in MLH1-deficient colorectal cancers (CRCs), whereas MLH1-proficient CRCs showed a significant upregulation of SPTAN1. We conclude that SPTAN1 is a candidate molecule explaining the tumor progression and metastasis of MLH1-deficient CRCs. | Downregulation of SPTAN1 is related to MLH1 deficiency and metastasis in colorectal cancer.
Ackermann A, Schrecker C, Bon D, Friedrichs N, Bankov K, Wild P, Plotz G, Zeuzem S, Herrmann E, Hansmann ML, Brieger A., Free PMC Article | 12/21/2019 |
| we present two patients with novel SPTAN1 variants who exhibit potentially important differences from other published cases and expand the SPTAN1 encephalopathy phenotype. | Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR., Free PMC Article | 11/2/2019 |
| alphaII spectrin has a role in critical aspects of dendritic and axonal development and synaptogenesis, and there is a dominant-negative mechanism of SPTAN1 mutations in epileptic encephalopathy | Critical roles of αII spectrin in brain development and epileptic encephalopathy.
Wang Y, Ji T, Nelson AD, Glanowska K, Murphy GG, Jenkins PM, Parent JM., Free PMC Article | 07/20/2019 |
| Spectrin may be engaged in regulation of distinct events necessary for the establishment and maturity of the immunological synapse. | αII-spectrin in T cells is involved in the regulation of cell-cell contact leading to immunological synapse formation?
Meissner JM, Sikorski AF, Nawara T, Grzesiak J, Marycz K, Bogusławska DM, Michalczyk I, Lecomte MC, Machnicka B., Free PMC Article | 01/6/2018 |
| SPTAN1-related disorders comprise a wide spectrum of neurodevelopmental phenotypes ranging from mild to severe and progressive. Spectrin aggregate formation in fibroblasts with mutations in the alpha/beta heterodimerization domain seems to be associated with a severe neurodegenerative course. | Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R., Free PMC Article | 11/4/2017 |
| Alpha-spectrin is critical for recruitment of non-ubiquitinated FANCD2 to sites of damage, which has an important role in the repair response and interstrand cross-link repair. | Nuclear α Spectrin Differentially Affects Monoubiquitinated Versus Non-Ubiquitinated FANCD2 Function After DNA Interstrand Cross-Link Damage.
Zhang P, Sridharan D, Lambert MW. | 12/17/2016 |
| Studies demonstrate that alpha-IISp plays a critical role in maintaining chromosome stability in cells after DNA interstrand cross-links damage by repairing damage that occurs in both genomic and telomeric DNA. | Functional Significance of Nuclear α Spectrin.
Lambert MW. | 05/14/2016 |
| These results suggest that ubiquitin C-terminal hydrolase and alphaII-spectrin breakdown product 145 kDa may be useful in assessing outcome after pediatric traumatic brain injury. | Serum concentrations of ubiquitin C-terminal hydrolase-L1 and αII-spectrin breakdown product 145 kDa correlate with outcome after pediatric TBI.
Berger RP, Hayes RL, Richichi R, Beers SR, Wang KK., Free PMC Article | 02/24/2016 |
| Variations in both alpha-spectrin (SPTA1) and beta-spectrin ( SPTB ) were found in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. | Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis.
Christensen RD, Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT, Yaish HM. | 10/4/2014 |
| aggressiveness of MLH1-positive colorectal cancers might be related to SPTAN1. | Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1.
Hinrichsen I, Ernst BP, Nuber F, Passmann S, Schäfer D, Steinke V, Friedrichs N, Plotz G, Zeuzem S, Brieger A., Free PMC Article | 09/13/2014 |
| hypomyelination of the cerebral white matter was revealed at the age of 1 year, and a de novo heterozygous mutation in the SPTAN1 gene was confirmed | Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.
Nonoda Y, Saito Y, Nagai S, Sasaki M, Iwasaki T, Matsumoto N, Ishii M, Saitsu H. | 08/3/2013 |
| loss of SPTAN1 switches TGF-beta signaling from tumor suppression to tumor promotion by engaging Notch signaling and activating SOX9 in esophageal adenocarcinoma. | Loss of TGF-β adaptor β2SP activates notch signaling and SOX9 expression in esophageal adenocarcinoma.
Song S, Maru DM, Ajani JA, Chan CH, Honjo S, Lin HK, Correa A, Hofstetter WL, Davila M, Stroehlein J, Mishra L., Free PMC Article | 06/29/2013 |
| organization of a spectrin-like cytoskeleton is associated with keratinocyte differentiation, and cytoskeleton disruption is mediated by either PKCdelta(Thr505) phosphorylation associated with phosphorylated adducin or due to reduction of endogenous adducin | Disruption of spectrin-like cytoskeleton in differentiating keratinocytes by PKCδ activation is associated with phosphorylated adducin.
Zhao KN, Masci PP, Lavin MF., Free PMC Article | 11/24/2012 |
| In-frame mutations in the C-terminus of SPTAN1 cause a core set of manifestations that include severe intellectual disability, generalized epilepsy, and pontocerebellar atrophy. | Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.
Hamdan FF, Saitsu H, Nishiyama K, Gauthier J, Dobrzeniecka S, Spiegelman D, Lacaille JC, Décarie JC, Matsumoto N, Rouleau GA, Michaud JL., Free PMC Article | 10/13/2012 |
| Analysis of alphaII-spectrin breakdown products in cerebrospinal fluid predicts mortality and injury severity in adults following traumatic brain injury. | αII-spectrin breakdown products (SBDPs): diagnosis and outcome in severe traumatic brain injury patients.
Mondello S, Robicsek SA, Gabrielli A, Brophy GM, Papa L, Tepas J, Robertson C, Buki A, Scharf D, Jixiang M, Akinyi L, Muller U, Wang KK, Hayes RL., Free PMC Article | 03/26/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |