The wide and growing range of lamin B-related diseases: from laminopathies to cancer

C Evangelisti, I Rusciano, S Mongiorgi… - Cellular and Molecular …, 2022 - Springer
B-type lamins are fundamental components of the nuclear lamina, a complex structure that
acts as a scaffold for organization and function of the nucleus. Lamin B1 and B2, the most …

Lamin B1 as a key modulator of the developing and aging brain

FD Koufi, I Neri, G Ramazzotti, I Rusciano… - Frontiers in Cellular …, 2023 - frontiersin.org
Lamin B1 is an essential protein of the nuclear lamina that plays a crucial role in nuclear
function and organization. It has been demonstrated that lamin B1 is essential for …

Understanding the ultra-rare disease autosomal dominant leukodystrophy: An updated review on morpho-functional alterations found in experimental models

I Neri, G Ramazzotti, S Mongiorgi, I Rusciano… - Molecular …, 2023 - Springer
Autosomal dominant leukodystrophy (ADLD) is an ultra-rare, slowly progressive, and fatal
neurodegenerative disorder associated with the loss of white matter in the central nervous …

Location-dependent role of phospholipase C signaling in the brain: Physiology and pathology

I Rusciano, MV Marvi, EO Obeng, S Mongiorgi… - Advances in Biological …, 2021 - Elsevier
Phosphoinositide-specific phospholipases C (PI-PLCs) are a class of enzymes involved in
the phosphatidylinositol metabolism, which is implicated in the activation of several …

Emerging cellular themes in leukodystrophies

JC Nowacki, AM Fields, MM Fu - Frontiers in Cell and Developmental …, 2022 - frontiersin.org
Leukodystrophies are a broad spectrum of neurological disorders that are characterized
primarily by deficiencies in myelin formation. Clinical manifestations of leukodystrophies …

Nuclear Phospholipids and Signaling: An Update of the Story

I Casalin, E Ceneri, S Ratti, L Manzoli, L Cocco… - Cells, 2024 - mdpi.com
In the last three decades, the presence of phospholipids in the nucleus has been shown and
thoroughly investigated. A considerable amount of interest has been raised about nuclear …

Lamin B1 accumulation's effects on autosomal dominant leukodystrophy (ADLD): Induction of reactivity in the astrocytes

S Ratti, I Rusciano, S Mongiorgi, I Neri, A Cappellini… - Cells, 2021 - mdpi.com
Autosomal dominant leukodystrophy (ADLD) is an extremely rare and fatal
neurodegenerative disease due to the overexpression of the nuclear lamina component …

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult‐Onset Demyelinating Leukodystrophy

P Dimartino, M Zadorozhna, V Yumiceba… - Annals of …, 2024 - Wiley Online Library
Objectives We aimed to elucidate the pathogenic mechanisms underlying autosomal
dominant adult‐onset demyelinating leukodystrophy (ADLD), and to understand the …

What Is the Role of Nuclear Envelope Proteins in Neurologic Disorders?

E Benarroch - Neurology, 2024 - AAN Enterprises
The nuclear envelope compartmentalizes the nuclear DNA from the cytoplasm and protects,
organizes, and regulates the eukaryote genome while adapting to its environment, including …

Disorders with prominent posterior fossa involvement

X Ayrignac - Handbook of Clinical Neurology, 2024 - Elsevier
Inherited white matter disorders include a wide range of disorders of various origins with
distinct genetic, pathophysiologic, and metabolic backgrounds. Although most of these …