| SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis. | SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.
Naruse H, Ishiura H, Esaki K, Mitsui J, Satake W, Greimel P, Shingai N, Machino Y, Kokubo Y, Hamaguchi H, Oda T, Ikkaku T, Yokota I, Takahashi Y, Suzuki Y, Matsukawa T, Goto J, Koh K, Takiyama Y, Morishita S, Yoshikawa T, Tsuji S, Toda T., Free PMC Article | 04/22/2024 |
| Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis. | Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
Dohrn MF, Beijer D, Lone MA, Bayraktar E, Oflazer P, Orbach R, Donkervoort S, Foley AR, Rose A, Lyons M, Louie RJ, Gable K, Dunn T, Chen S, Danzi MC, Synofzik M, Bönnemann CG, Nazlı Başak A, Hornemann T, Zuchner S., Free PMC Article | 02/22/2024 |
| Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. | Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC Jr, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A, Shieh PB, Foley AR, Jackson KE, Chao KR, Winder TL, Catapano F, Feng L, Kirschner J, Muntoni F, Dunn TM, Hornemann T, Bönnemann CG., Free PMC Article | 01/17/2024 |
| Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family. | Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.
Wilson LMQ, Saba S, Li J, Prasov L, Miller JML., Free PMC Article | 05/5/2023 |
| Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis. | Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.
Li C, Hou Y, Wei Q, Lin J, Jiang Z, Jiang Q, Yang T, Xiao Y, Huang J, Cheng Y, Ou R, Liu K, Chen X, Song W, Zhao B, Wu Y, Cao B, Chen Y, Shang H., Free PMC Article | 03/29/2023 |
| Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. | Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.
Cintra VP, Dohrn MF, Tomaselli PJ, Figueiredo FB, Marques SE, Camargos ST, Barbosa LSM, P Rebelo A, Abreu L, Danzi M, Marques W Jr, Züchner S., Free PMC Article | 08/14/2021 |
| Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex. | Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex.
Li S, Xie T, Liu P, Wang L, Gong X. | 05/1/2021 |
| A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C. | A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
Suriyanarayanan S, Othman A, Dräger B, Schirmacher A, Young P, Mulahasanovic L, Hörtnagel K, Biskup S, von Eckardstein A, Hornemann T, Lone MA. | 02/6/2021 |
| Increased expression of serine palmitoyl transferase and ORMDL3 polymorphism are associated with eosinophilic inflammation and airflow limitation in aspirin-exacerbated respiratory disease. | Increased expression of serine palmitoyl transferase and ORMDL3 polymorphism are associated with eosinophilic inflammation and airflow limitation in aspirin-exacerbated respiratory disease.
Ban GY, Youn DY, Ye YM, Park HS., Free PMC Article | 12/12/2020 |
| Elevated levels of atypical deoxysphingolipids, caused by variant SPTLC1 or SPTLC2 or by low serine levels, were risk factors for macular telangiectasia type 2, as well as for peripheral neuropathy. | Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
Gantner ML, Eade K, Wallace M, Handzlik MK, Fallon R, Trombley J, Bonelli R, Giles S, Harkins-Perry S, Heeren TFC, Sauer L, Ideguchi Y, Baldini M, Scheppke L, Dorrell MI, Kitano M, Hart BJ, Cai C, Nagasaki T, Badur MG, Okada M, Woods SM, Egan C, Gillies M, Guymer R, Eichler F, Bahlo M, Fruttiger M, Allikmets R, Bernstein PS, Metallo CM, Friedlander M., Free PMC Article | 10/26/2019 |
| HSAN-I-associated mutations in serine palmitoyltransferase subunit SPTLC2 dampened human T cell responses. SPTLC2 underpins protective immunity by translating extracellular stimuli into intracellular anabolic signals and antagonizes endoplasmic reticulum stress to promote T cell metabolic fitness. | Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8(+) T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.
Wu J, Ma S, Sandhoff R, Ming Y, Hotz-Wagenblatt A, Timmerman V, Bonello-Palot N, Schlotter-Weigel B, Auer-Grumbach M, Seeman P, Löscher WN, Reindl M, Weiss F, Mah E, Weisshaar N, Madi A, Mohr K, Schlimbach T, Velasco Cárdenas RM, Koeppel J, Grünschläger F, Müller L, Baumeister M, Brügger B, Schmitt M, Wabnitz G, Samstag Y, Cui G., Free PMC Article | 10/19/2019 |
| 2 families had late-onset autosomal dominant HSAN1C caused by a new variant in SPTLC2, c.547C>T, p.(Arg183Trp). The variant changed a conserved amino acid. | The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, Ylikallio E. | 12/31/2016 |
| The activities of the hLCB2a mutants were measured in the presence of ssSPTa and ssSPTb and was found that all decrease enzyme activity. | The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations.
Beattie AE, Gupta SD, Frankova L, Kazlauskaite A, Harmon JM, Dunn TM, Campopiano DJ., Free PMC Article | 06/14/2014 |
| Mutations in SPTLC2 are associated with increased deoxySL formation causing hereditary sensory and autonomic neuropathy type 1 (HSANI) in a familial study. | Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.
Murphy SM, Ernst D, Wei Y, Laurà M, Liu YT, Polke J, Blake J, Winer J, Houlden H, Hornemann T, Reilly MM., Free PMC Article | 08/3/2013 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. | Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Löscher W, Vondráček P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V., Free PMC Article | 10/30/2010 |
| discovery of 2 proteins, ssSPTa and ssSPTb, which each interacts with both hLCB1 and hLCB2, suggesting that there are 4 distinct human SPT isozymes. | Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.
Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler F, Brown RH Jr, Harmon JM, Dunn TM., Free PMC Article | 01/21/2010 |
| Results suggest that functional serine palmitoyltransferase is not a dimer, but a higher organized complex, composed of three distinct subunits (SPTLC1, SPTLC2 and SPTLC3) with a molecular mass of 480 kDa. | Is the mammalian serine palmitoyltransferase a high-molecular-mass complex?
Hornemann T, Wei Y, von Eckardstein A., Free PMC Article | 01/21/2010 |
| results suggest that SPTLC2 mutations are not a common cause for genetic sensory neuropathies. | Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
Dawkins JL, Brahmbhatt S, Auer-Grumbach M, Wagner K, Hartung HP, Verhoeven K, Timmerman V, De Jonghe P, Kennerson M, LeGuern E, Nicholson GA. | 01/21/2010 |
| an increase in transepidermal water loss is an obligatory trigger for the upregulation of serine palmitoyltransferase mRNA expression in human epidermis | Permeability barrier disruption increases the level of serine palmitoyltransferase in human epidermis.
Stachowitz S, Alessandrini F, Abeck D, Ring J, Behrendt H. | 01/21/2010 |