Uncovering cilia function in glial development DOI Open Access
Rachel Bear, Tamara Caspary

Annals of Human Genetics, Год журнала: 2023, Номер 88(1), С. 27 - 44

Опубликована: Июль 10, 2023

SUMMARY Primary cilia play critical roles in regulating signaling pathways that underlie several developmental processes. In the nervous system, are known to regulate signals guide neuron development. Cilia dysregulation is implicated neurological diseases, and underlying mechanisms remain poorly understood. research has predominantly focused on neurons overlooked diverse population of glial cells brain. Glial essential during neurodevelopment, their dysfunction contributes disease; however, relationship between function development understudied. Here we review state field highlight cell types where found ciliary functions linked This work uncovers importance raises outstanding questions for field. We poised make progress understanding human contribution diseases.

Язык: Английский

Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis DOI Creative Commons
Min‐Young Noh, Seong‐il Oh, Young-Eun Kim

и другие.

Molecular Neurodegeneration, Год журнала: 2025, Номер 20(1)

Опубликована: Май 20, 2025

Язык: Английский

Процитировано

0
Centrosomes and cilia in neurodegeneration: main actors or mere spectators? DOI Creative Commons
Ramona Lattao

Open Biology, Год журнала: 2025, Номер 15(5)

Опубликована: Май 1, 2025

Centrosomes are intracellular organelles traditionally recognized as the primary microtubule (MT) organizing centres (MTOCs) in cell, playing a crucial role cytoskeleton and forming MT-based spindle during cell division. However, it is now well established that centrosomes also function central hubs for wide range of signalling pathways. In non-dividing cells, they give rise to cilium, surface antenna serves key structure signalling. Neurons highly specialized cells with distinctive morphology, most neurons have cilia. During brain development, cilia regulate self-renewal neural progenitors, differentiation, migration synapse formation newly generated neurons. As consequence, defects result various neurodevelopmental disorders. The neurodegeneration, or progressive loss neurons, less understood. take part several cellular processes often disrupted neurodegenerative diseases (NDDs), many proteins associated these conditions been found at suggesting link between underlying mechanisms contribute neuronal decline. Unravelling if how centrosome dysfunction contributes neurodegeneration could significantly deepen our understanding biology Such insights may pave way new therapeutic approaches address debilitating conditions.

Язык: Английский

Процитировано

0
Brain lateralization for perceiving direction of motion is reversed in Williams syndrome and related to BUD23 DOI Creative Commons

Debra L. Mills,

Li Dai,

Julie R. Korenberg

и другие.

Scientific Reports, Год журнала: 2025, Номер 15(1)

Опубликована: Июнь 5, 2025

Язык: Английский

Процитировано

0
Depression Pathophysiology: Astrocyte Mitochondrial Melatonergic Pathway as Crucial Hub DOI Open Access
George Anderson

International Journal of Molecular Sciences, Год журнала: 2022, Номер 24(1), С. 350 - 350

Опубликована: Дек. 26, 2022

Major depressive disorder (MDD) is widely accepted as having a heterogenous pathophysiology involving complex mixture of systemic and CNS processes. A developmental etiology coupled to genetic epigenetic risk factors well lifestyle social process influences add further the complexity. Consequently, antidepressant treatment generally regarded open improvement, undoubtedly consequence inappropriately targeted pathophysiological This article reviews diverse array processes linked MDD, integrates these within perspective that emphasizes alterations in mitochondrial function, both centrally systemically. It proposed long-standing association MDD with suppressed serotonin availability reflective role precursor for melatonergic pathway. Astrocytes, astrocyte pathway, are highlighted crucial hubs integration wide biological underpinnings including gut dysbiosis permeability, stressors, which can act suppress capacity mitochondria upregulate consequences oxidant-induced changes patterned microRNAs subsequent gene responses. placed development context, how processes, such discrimination, physiologically regulate susceptibility MDD. Future research directions implications derived from this.

Язык: Английский

Процитировано

14
Uncovering cilia function in glial development DOI Open Access
Rachel Bear, Tamara Caspary

Annals of Human Genetics, Год журнала: 2023, Номер 88(1), С. 27 - 44

Опубликована: Июль 10, 2023

SUMMARY Primary cilia play critical roles in regulating signaling pathways that underlie several developmental processes. In the nervous system, are known to regulate signals guide neuron development. Cilia dysregulation is implicated neurological diseases, and underlying mechanisms remain poorly understood. research has predominantly focused on neurons overlooked diverse population of glial cells brain. Glial essential during neurodevelopment, their dysfunction contributes disease; however, relationship between function development understudied. Here we review state field highlight cell types where found ciliary functions linked This work uncovers importance raises outstanding questions for field. We poised make progress understanding human contribution diseases.

Язык: Английский

Процитировано

7