118 results on '"Lone, Museer A."'
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2. SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS
3. The conformational plasticity of structurally unrelated lipid transport proteins correlates with their mode of action.
4. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
5. Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights (P4-8.001)
6. Subunit composition of the mammalian serine-palmitoyltransferase defines the spectrum of straight and methyl-branched long-chain bases
7. An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions
8. Serine Palmitoyltransferase Subunit 3 and Metabolic Diseases
9. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
10. Editorial: Genetic disorders and rare diseases: in vitro models for preclinical pharmacological studies and translation
11. Recurrentde-novo gain-of-functionmutation inSPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
12. Recurrent de novoSPTLC2variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
13. SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
14. Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
15. Recurrent de novo SPTLC2 variant causes childhoodonset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
16. A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C
17. Conformational dynamics of lipid transfer domains provide a general framework to decode their functional mechanism
18. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
19. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
20. Recurrent de-novo gain-of-functionmutation in SPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
21. Recurrent de novo SPTLC2variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
22. Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1
23. Serine Palmitoyltransferase Subunit 3 and Metabolic Diseases
24. SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
25. SPTLC1 variants associated with childhood onset amyotrophic lateral sclerosis produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
26. SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS
27. Orm1 and Orm2 are conserved endoplasmic reticulum membrane proteins regulating lipid homeostasis and protein quality control
28. Precision mouse models of Yars/dominant intermediate Charcot‐Marie‐Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1
29. Precision mouse models of Yars/dominant intermediate Charcot‐Marie‐Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.
30. Subunit composition of the mammalian serine-palmitoyltransferase defines the spectrum of straight and methyl-branched long-chain bases
31. An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions
32. Metabolism of HSAN1- and T2DM-associated 1-deoxy-sphingolipids inhibits the migration of fibroblasts
33. Farnesoid X receptor activation induces the degradation of hepatotoxic 1-deoxysphingolipids in non-alcoholic fatty liver disease
34. FADS3 is a Δ4Z sphingoid base desaturase that contributes to gender differences to the human plasma sphingolipidome
35. Metabolism of HSAN1- and T2DM-associated 1-deoxy-sphingolipids inhibits the migration of fibroblasts
36. CaMtw1, a member of the evolutionarily conserved Mis12 kinetochore protein family, is required for efficient inner kinetochore assembly in the pathogenic yeast Candida albicans
37. Farnesoid X receptor activation induces the degradation of hepatotoxic 1‐deoxysphingolipids in non‐alcoholic fatty liver disease
38. An alternatively spliced, non-signaling insulin receptor modulates insulin sensitivity via insulin peptide sequestration in C. elegans
39. FADS3 is a Δ14Z sphingoid base desaturase that contributes to gender differences in the human plasma sphingolipidome
40. Author response: An alternatively spliced, non-signaling insulin receptor modulates insulin sensitivity via insulin peptide sequestration in C. elegans
41. Accumulation of long-chain bases in yeast promotes their conversion to a long-chain base vinyl ether
42. Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C
43. Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C
44. Accumulation of long-chain bases in yeast promotes their conversion to a long-chain base vinyl ether
45. Fighting Diabetes: Lessons from Xenotransplantation and Nanomedicine
46. Yeast Integral Membrane Proteins Apq12, Brl1, and Brr6 Form a Complex Important for Regulation of Membrane Homeostasis and Nuclear Pore Complex Biogenesis
47. The natural diyne-furan fatty acid EV-086 is an inhibitor of fungal delta-9 fatty acid desaturation with efficacy in a model of skin dermatophytosis
48. Characterization of N-Acyl Phosphatidylethanolamine-Specific Phospholipase-D Isoforms in the Nematode Caenorhabditis elegans
49. The Natural Diyne-Furan Fatty Acid EV-086 Is an Inhibitor of Fungal Delta-9 Fatty Acid Desaturation with Efficacy in a Model of Skin Dermatophytosis
50. A Novel Sit4 Phosphatase Complex Is Involved in the Response to Ceramide Stress in Yeast
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