Results 141 to 150 of about 84,432 (239)

The CRISPR‐Cas9 knockout DDC SH‐SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross‐sectional structural and functional analysis

open access: yesThe FEBS Journal, EarlyView.
Here, we generated a DDC‐KO cellular model for studying aromatic amino acid decarboxylase (AADC) deficiency. This model was created using CRISPR‐Cas9 in the SH‐SY5Y neuroblastoma cell line and was validated through the absence of the dopamine product and an altered l‐dopa metabolite profile.
Cristian Andres Carmona‐Carmona   +11 more
wiley   +1 more source

Potential cytotoxicity of truncated slow skeletal muscle troponin T (ssTnT) in a loss of function TNNT1 myopathy mouse model

open access: yesThe FEBS Journal, EarlyView.
A loss of function TNNT1 myopathy mouse model with the nonsense mutation p.E180* showed potential cytotoxicity of the truncated slow troponin T fragment. The mRNA expression profile in the soleus muscle of Tnnt1‐p.E180* mice showed very different changes in comparison to that of Tnnt1‐knockout mice.
Han‐Zhong Feng   +2 more
wiley   +1 more source

Defining the interactome of the pancreas‐specific SPCA2 isoform (SPCA2C) identifies unique links to store‐operated Ca2+ entry

open access: yesThe FEBS Journal, EarlyView.
A BioID screen identified interacting proteins for secretory pathway calcium (Ca2+) ATPase 2C (SPCA2C) and showed new links to store‐operated Ca2+ entry. Interactions between SPCA2C and Orai1 were confirmed, along with newly identified interactions with STIM1 and CCDC47.
Petra Samardzija   +9 more
wiley   +1 more source

Hydrophobic residues in the α‐synuclein NAC domain drive seed‐competent fibril formation and are targeted by peptide inhibitors

open access: yesThe FEBS Journal, EarlyView.
The hydrophobic 68GAVV71 stretch in the NAC domain of α‐synuclein is essential for nucleation, while residues 79–95 are required for fibril stability and seeding. Truncation or inhibition of 68GAVV71 prevents fibril formation, and truncation of 79–95 abolishes seeding competency, highlighting their distinct roles in α‐synuclein aggregation and ...
Viswanath Das   +13 more
wiley   +1 more source

Fortnightly Review: Bone densitometry in clinical practice [PDF]

open access: green, 1995
J. Compston   +2 more
openalex   +1 more source

Spinal Stenosis: An Emerging Complication of Ageing in People With Haemophilia

open access: yesHaemophilia, EarlyView.
ABSTRACT Introduction Advances in haemophilia care have brought the challenges of ageing for people with haemophilia (PWH) to the forefront. Age‐related spinal degeneration may result in spinal stenosis; however, the rates in PWH are unknown. We sought to systematically review Irish PWH to address this gap in the current literature.
Claire Kelly   +19 more
wiley   +1 more source

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