Late Endosomal/Lysosomal Accumulation of a Neurotransmitter Receptor in a Cellular Model of Smith‐Lemli‐Opitz Syndrome

Traffic ◽  
2021 ◽  
Author(s):  
Ashwani Sharma ◽  
G. Aditya Kumar ◽  
Amitabha Chattopadhyay
Keyword(s):  
Cellular Model ◽  
Neurotransmitter Receptor ◽  
Lysosomal Accumulation ◽  
Opitz Syndrome

scholarly journals Signaling by the human serotonin1A receptor is impaired in cellular model of Smith–Lemli–Opitz Syndrome

2008 ◽  
Vol 1778 (6) ◽  
pp. 1508-1516 ◽  
Author(s):  
Yamuna Devi Paila ◽  
Mamidanna R.V.S. Murty ◽  
Mariappanadar Vairamani ◽  
Amitabha Chattopadhyay
Keyword(s):  
Cellular Model ◽  
Serotonin1a Receptor ◽  
Opitz Syndrome

Analysis of alpha-synuclein aggregation and associated pathologies in a cellular model of multiple system atrophy

2005 ◽  
Vol 32 (06) ◽  
Author(s):  
G Fillon ◽  
M Neumann ◽  
R Zufferey ◽  
P Aebischer ◽  
HA Kretzschmar ◽  
...  
Keyword(s):  
Multiple System Atrophy ◽  
Alpha Synuclein ◽  
Cellular Model ◽  
Alpha Synuclein Aggregation

Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol

2000 ◽  
Vol 23 (6) ◽  
pp. 638-639 ◽  
Author(s):  
V. Bzdúch ◽  
D. Behúlová ◽  
L. Kozák ◽  
J. Škodová ◽  
E. Véghová ◽  
...  
Keyword(s):  
Plasma Cholesterol ◽  
Opitz Syndrome

Incidence of Smith-Lemli-Opitz syndrome in Slovakia

2000 ◽  
Vol 90 (3) ◽  
pp. 260-260 ◽  
Author(s):  
Vladim�r Bzd�ch ◽  
Darina Beh�lov� ◽  
Jozef�na ?kodov�
Keyword(s):  
Opitz Syndrome

scholarly journals A rapid and robust method for the cryopreservation of human granulosa cells

2021 ◽  
Author(s):  
Sarah Beschta ◽  
Katja Eubler ◽  
Nancy Bohne ◽  
Ignasi Forne ◽  
Dieter Berg ◽  
...  
Keyword(s):  
Granulosa Cells ◽  
Large Scale ◽  
Ovarian Function ◽  
Oocyte Retrieval ◽  
Cell Contact ◽  
Cellular Model ◽  
Preovulatory Follicle ◽  
Human Granulosa Cells ◽  
Ovarian Cells

AbstractHuman primary granulosa cells (GCs) derived from women undergoing oocyte retrieval can be cultured and used as a cellular model for the study of human ovarian function. In vitro, they change rapidly, initially resembling cells of the preovulatory follicle and then cells of the corpus luteum. They are derived from individual patients, whose different medical history, lifestyle and age lead to heterogeneity. Thus, cells can rarely be ideally matched for cellular experiments or, if available, only in small quantities. We reasoned that cryopreservation of human GCs may be helpful to improve this situation. Previous studies indicated the feasibility of such an approach, but low survival of human GCs was reported, and effects on human GC functionality were only partially evaluated. We tested a slow freezing protocol (employing FCS and DMSO) for human GCs upon isolation from follicular fluid. We compared cryopreserved and subsequently thawed cells with fresh, non-cryopreserved cells from the same patients. About 80% of human GCs survived freezing/thawing. No differences were found in cell morphology, survival rate in culture, or transcript levels of mitochondrial (COX4, OPA1, TOMM20), steroidogenic (CYP11A1, CYP19A1) or cell–cell contact genes (GJA1) between the two groups in cells cultured for 1–5 days. A proteomic analysis revealed no statistically significant change in the abundance of a total of 5962 proteins. The two groups produced comparable basal levels of progesterone and responded similarly to hCG with elevation of progesterone. Taken together, our results show this to be a rapid and readily available method for the cryopreservation of human GCs. We anticipate that it will allow future large-scale experiments and may thereby improve cellular studies with human ovarian cells.

scholarly journals Auditory phenotype of Smith–Lemli–Opitz syndrome

2021 ◽  
Author(s):  
Christopher K. Zalewski ◽  
Sarah A. Sydlowski ◽  
Kelly A. King ◽  
Simona Bianconi ◽  
An Dang Do ◽  
...  
Keyword(s):  
Opitz Syndrome

scholarly journals The extracellular chaperone Clusterin enhances Tau aggregate seeding in a cellular model

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Patricia Yuste-Checa ◽  
Victoria A. Trinkaus ◽  
Irene Riera-Tur ◽  
Rahmi Imamoglu ◽  
Theresa F. Schaller ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Disease Progression ◽  
Frontotemporal Dementia ◽  
Brain Regions ◽  
Model System ◽  
Cellular Model ◽  
Tau Pathology ◽  
Extracellular Chaperone ◽  
Tau Aggregate

AbstractSpreading of aggregate pathology across brain regions acts as a driver of disease progression in Tau-related neurodegeneration, including Alzheimer’s disease (AD) and frontotemporal dementia. Aggregate seeds released from affected cells are internalized by naïve cells and induce the prion-like templating of soluble Tau into neurotoxic aggregates. Here we show in a cellular model system and in neurons that Clusterin, an abundant extracellular chaperone, strongly enhances Tau aggregate seeding. Upon interaction with Tau aggregates, Clusterin stabilizes highly potent, soluble seed species. Tau/Clusterin complexes enter recipient cells via endocytosis and compromise the endolysosomal compartment, allowing transfer to the cytosol where they propagate aggregation of endogenous Tau. Thus, upregulation of Clusterin, as observed in AD patients, may enhance Tau seeding and possibly accelerate the spreading of Tau pathology.

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