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Ladislav Kuchař

Charles University and General University Hospital in Prague

H指数:14

被引数:943

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ORMDL Proteins Turnover via Proteasome and Autophagy Is Cell-Type Dependent and Tied to Ceramide Homeostasis

ORMDL 蛋白的周转通过蛋白酶体和自噬进行，且其细胞类型依赖性并与鞘氨醇稳态相关。

the faseb journal

IF0

2026-03-100

OAAI

Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency

MOLECULAR THERAPY

IF12

2024-10-010

OAAI

LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method

CLINICA CHIMICA ACTA

IF2.9

2024-07-012

OAAI

Simultaneous deletion of ORMDL1 and ORMDL3 proteins disrupts immune cell homeostasis

FRONTIERS IN IMMUNOLOGY

IF5.9

2024-04-230

OAAI

Simultaneous reduction of all ORMDL proteins decreases the threshold of mast cell activation

SCIENTIFIC REPORTS

IF3.9

2023-06-144

OAAI

Lipidomic profiling of human serum enables detection of pancreatic cancer

NATURE COMMUNICATIONS

IF15.7

2022-01-10101

OAAI

ORMDL2 Deficiency Potentiates the ORMDL3-Dependent Changes in Mast Cell Signaling

FRONTIERS IN IMMUNOLOGY

IF5.9

2021-02-1110

OAAI

Crosstalk between ORMDL3, serine palmitoyltransferase, and 5-lipoxygenase in the sphingolipid and eicosanoid metabolic pathways

JOURNAL OF LIPID RESEARCH

IF4.1

2021-01-018

OAAI

A new role for dolichol isoform profile in the diagnostics of CDG disorders

CLINICA CHIMICA ACTA

IF2.9

2020-08-014

OAAI

Lipidomic characterization of exosomes isolated from human plasma using various mass spectrometry techniques

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

IF3.3

2020-05-0140

PREAI

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2020-04-059

OAAI

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

16名波兰患者的慢性内脏酸鞘磷脂酶缺乏症 (b型niemann-pick病): 长期随访

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2019-02-2221

OAAI

Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B

IF3.3

2018-03-146

OAAI

Conserved roles of C. elegans and human MANFs in sulfatide binding and cytoprotection

NATURE COMMUNICATIONS

IF15.7

2018-03-0165

OAAI

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV

NEUROBIOLOGY OF DISEASE

IF5.6

2017-09-0113

OAAI

Assessment of n-butyl-deoxynojirimycin as a therapeutic option for mucolipidosis type IV

MOLECULAR GENETICS AND METABOLISM

IF3.5

2016-02-010

PREAI

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

NATURE COMMUNICATIONS

IF15.7

2015-01-0971

OAAI

Kmoch, S.; Majewski, J.; Ramamurthy, V.; Cao, S.; Fahiminiya, S.; Ren, H.; MacDonald, I. M.; Lopez, I.; Sun, V.; Keser, V.; Khan, A.; Stranecky, V.; Hartmannova, H.; Pristoupilova, A.; Hodanova, K.; Piherova, L.; Kuchar, L.; Baxova, A.; Chen, R.; Barsottini, O. G. P.; Pyle, A.; Griffin, H.; Splitt, M.; Sallum, J.; Tolmie, J. L.; Sampson, J. R.; Chinnery, P.; Banin, E.; Sharon, D.; Dutta, S.; Grebler, R.; Helfrich-Foerster, C.; Pedroso, J. L.; Kretzschmar, D.; Cayouette, M.; Koenekoop, R. K.

Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging

ANALYTICAL AND BIOANALYTICAL CHEMISTRY

IF3.8

2014-12-2719

PREAI

Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy

CLINICA CHIMICA ACTA

IF2.9

2013-10-0117

OAAI

Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease

IF3.3

2012-02-078

OAAI