Results 101 to 110 of about 6,058 (200)

Stress-Induced CDK5 Activation Disrupts Axonal Transport via Lis1/Ndel1/Dynein

open access: yesCell Reports, 2015
Axonal transport is essential for neuronal function, and defects in transport are associated with multiple neurodegenerative diseases. Aberrant cyclin-dependent kinase 5 (CDK5) activity, driven by the stress-induced activator p25, also is observed in ...
Eva Klinman, Erika L.F. Holzbaur
doaj   +1 more source

Supporting process reuse in PROMENADE [PDF]

open access: yes, 2002
Process reuse (the ability to construct new processes by assembling already built ones) and process harvesting (the ability to build generic processes that may be further reused, from existing ones) are two crucial issues in process technology.
Franch Gutiérrez, Javier   +1 more
core   +1 more source

Comparative structural study on axonemal and cytoplasmic dyneins

open access: yesCytoskeleton, Volume 81, Issue 11, Page 681-690, November 2024.
Abstract Axonemal dyneins are the driving force of motile cilia, while cytoplasmic dyneins play an essential role in minus‐end oriented intracellular transport. Their molecular structure is indispensable for an understanding of the molecular mechanism of ciliary beating and cargo transport. After some initial structural analysis of cytoplasmic dyneins,
Noemi Zimmermann, Takashi Ishikawa
wiley   +1 more source

Lis1 puts mRNAs in their place [PDF]

open access: yesJournal of Cell Biology, 2013
![Figure][1] The apical accumulation of hairy RNA (green) is reduced in an embryo lacking Lis1 (bottom) compared with a control embryo (top). Nuclei are labeled red. A protein associated with the neurodevelopmental disorder lissencephaly promotes the assembly of dynein–dynactin ...
openaire   +1 more source

WONOEP appraisal: Genetic insights into early onset epilepsies

open access: yesEpilepsia, Volume 65, Issue 11, Page 3138-3154, November 2024.
Abstract Early onset epilepsies occur in newborns and infants, and to date, genetic aberrations and variants have been identified in approximately one quarter of all patients. With technological sequencing advances and ongoing research, the genetic diagnostic yield for specific seizure disorders and epilepsies is expected to increase.
Anne Quatraccioni   +15 more
wiley   +1 more source

Diagnostic work‐up in malformations of cortical development

open access: yesDevelopmental Medicine &Child Neurology, Volume 66, Issue 8, Page 974-989, August 2024.
Malformations of cortical development (MCDs) represent a heterogeneous spectrum of disorders, characterized by abnormal development of the cerebral cortex. Many MCDs are of genetic origin, although acquired factors can lead to similar phenotypes. In this narrative review, we provide an overview of the diagnostic approach to MCD, illustrated with ...
Ellen Rijckmans   +2 more
wiley   +1 more source

Immediate Therapeutic Response to Vigabatrin in Lissencephaly‐Related Epileptic Spasms due to TUBA1A R402H Variant

open access: yes
American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
Toru Nagata   +6 more
wiley   +1 more source

14‐3‐3 Family of Proteins: Biological Implications, Molecular Interactions, and Potential Intervention in Cancer, Virus and Neurodegeneration Disorders

open access: yesJournal of Cellular Biochemistry, Volume 125, Issue 7, July 2024.
ABSTRACT The 14‐3‐3 family of proteins are highly conserved acidic eukaryotic proteins (25–32 kDa) abundantly present in the body. Through numerous binding partners, the 14‐3‐3 is responsible for many essential cellular pathways, such as cell cycle regulation and gene transcription control.
Zheng Yao Low   +3 more
wiley   +1 more source

An Organoid-Based Model of Cortical Development Identifies Non-Cell-Autonomous Defects in Wnt Signaling Contributing to Miller-Dieker Syndrome

open access: yesCell Reports, 2017
Miller-Dieker syndrome (MDS) is caused by a heterozygous deletion of chromosome 17p13.3 involving the genes LIS1 and YWHAE (coding for 14.3.3ε) and leads to malformations during cortical development.
Vira Iefremova   +10 more
doaj   +1 more source

Heegaard Floer homology of surgeries on two-bridge links [PDF]

open access: yes, 2014
We give an $O(p^{2})$ time algorithm to compute the generalized Heegaard Floer complexes $A_{s_{1},s_{2}}^{-}(\overrightarrow{L})$'s for a two-bridge link $\overrightarrow{L}=b(p,q)$ by using nice diagrams.
Liu, Yajing
core  

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