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个人简介
Brain degeneration is a frequent problem at old age, but its prevention is currently impossible.
Microscopic studies have revealed quite specific patterns and hallmarks of neurodegeneration.
Hypothesis-driven biochemical and molecular research are making only slow progress to elucidate underlying causes and mechanisms.
Many of these diseases may be inherited in a monogenic manner in exceptional families,
allowing hypothesis-free genetic approaches:
– We define the chromosomal localization and identify the mutations of the disease gene;
– We study the subcellular localization and the protein and the molecular interactions of the mutant disease protein;
– We generate and characterize mouse mutants, which define the function of the disease protein
or which are engineered to model and study initial stages of the disease process.
– We survey expression changes across all genes within tissues from patients or mutant animals.
– We define biomarkers to quantify disease severity and progression,
in order to validate the benefit of preventive therapies.
Clinically, the group is focused on
– the SCA2 variant of Cerebellar Ataxia,
– the PARK6 / PARK1 / PARK4 variants of Parkinson’s Disease.
Functionally, the team has accumulated evidence that mitochondrial quality control after cell stress is crucial for neurodegeneration, so we are exploring the bioenergetic and inflammatory consequences.
Microscopic studies have revealed quite specific patterns and hallmarks of neurodegeneration.
Hypothesis-driven biochemical and molecular research are making only slow progress to elucidate underlying causes and mechanisms.
Many of these diseases may be inherited in a monogenic manner in exceptional families,
allowing hypothesis-free genetic approaches:
– We define the chromosomal localization and identify the mutations of the disease gene;
– We study the subcellular localization and the protein and the molecular interactions of the mutant disease protein;
– We generate and characterize mouse mutants, which define the function of the disease protein
or which are engineered to model and study initial stages of the disease process.
– We survey expression changes across all genes within tissues from patients or mutant animals.
– We define biomarkers to quantify disease severity and progression,
in order to validate the benefit of preventive therapies.
Clinically, the group is focused on
– the SCA2 variant of Cerebellar Ataxia,
– the PARK6 / PARK1 / PARK4 variants of Parkinson’s Disease.
Functionally, the team has accumulated evidence that mitochondrial quality control after cell stress is crucial for neurodegeneration, so we are exploring the bioenergetic and inflammatory consequences.
研究兴趣
论文共 343 篇作者统计合作学者相似作者
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The Cerebellumpp.1-9, (2024)
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESno. 24 (2023): 17503
Molecular cellno. 12 (2023): 2020-2034.e6
Yaimeé Vázquez-Mojena, Yanetsy Rodríguez-Córdova,Yennis Dominguez-Barrios,Karen León-Arcia, David Miranda-Becerra,Yanetza Gonzalez-Zaldivar, Guillermo Guerra-Bustillos,Ulf Ziemann,Georg Auburger,Roberto Rodríguez-Labrada,María de Los Ángeles Robinson-Agramonte,Luis Velázquez-Pérez
Luis Velázquez-Pérez,Roberto Rodríguez-Labrada,Yasmany Gonzalez-Garcés,Nalia Canales-Ochoa,Jacqueline Medrano-Montero,Yennis Domínguez-Barrios,Frank J. Carrillo-Rodes,María B. Ramírez-Bautista, Alberto Caballero-Laguna,Osiel Gámez-Rodríguez, María O. Hernández-Oliver, Yamilca Sosa-Cruz,
Wasifa Nurieva, Elena Ivanova, Sanabel Chehab, Parth Singh,Marina Reichlmeir,Karoly Szuhai,Georg W. J. Auburger,William C. Skarnes,Zoltan Ivics
Cellsno. 19 (2023): 2399-2399
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Handbook of Animal Models in Neurological Disorderspp.95-106, (2023)
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