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PubPharm (36)
1
SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS
enthalten in:
bioRxiv.org
| 2024
von
Lone, M.
|
Zeng, S.
|
Bourquin, F.
| +6
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2
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2024
von
Dohrn, M.
|
Beijer, D.
|
Lone, M.
| +17
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3
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2024
von
Syeda, S.
|
Lone, M.
|
Mohassel, P.
| +23
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4
SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS
enthalten in:
Biochimica et biophysica acta. Molecular and cell biology of lipids
| 2023
von
Lone, M.
|
Zeng, S.
|
Bourquin, F.
| +6
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5
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
enthalten in:
The Journal of clinical investigation
| 2023
von
Gehin, C.
|
Lone, M.
|
Lee, W.
| +82
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6
Conformational dynamics of lipid transfer domains provide a general framework to decode their functional mechanism
enthalten in:
bioRxiv.org
| 2023
von
Srinivasan, S.
|
Di Luca, A.
|
John Peter, A.
| +5
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7
Editorial : Genetic disorders and rare diseases: in vitro models for preclinical pharmacological studies and translation
enthalten in:
Frontiers in pharmacology
| 2023
von
Hassan, S.
|
Lone, M.
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8
Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1
enthalten in:
Journal of anatomy
| 2022
von
Hines, T.
|
Tadenev, A.
|
Lone, M.
| +6
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9
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
enthalten in:
The Journal of clinical investigation
| 2022
von
Lone, M.
|
Aaltonen, M.
|
Zidell, A.
| +7
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10
SPTLC1 variants associated with childhood onset amyotrophic lateral sclerosis produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
enthalten in:
bioRxiv.org
| 2022
von
Lone, M.
|
Aaltonen, M.
|
Zidell, A.
| +7
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Thema
23
Journal Article
16
Sphingolipids
15
Research Support, Non-U.S. Gov't
11
EC 2.3.1.50
11
Serine C-Palmitoyltransferase
8
Research Support, N.I.H., Extramural
5
452VLY9402
5
Serine
4
1-deoxysphingolipids
4
Ceramides
4
HSAN1
4
Mass spectrometry
4
Neuropathy
4
SPTLC1 protein, human
4
SPTLC2 protein, human
4
Saccharomyces cerevisiae Proteins
4
Serine-palmitoyltransferase
3
ALS
3
Membrane Proteins
3
sphingolipid
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Erscheinungszeitraum
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2020-
17
2010-2019
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