S. Squarzoni

Publications139
h-index38
Citations4,128
Highly Influential Citations106
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Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.
Lipodystrophies are a heterogeneous group of human disorders characterized by the anomalous distribution of body fat associated with insulin resistance and altered lipid metabolism. The pathogenetic… Expand
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Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked inherited disease characterized by early contracture of the elbows, Achilles tendons and post-cervical muscles, slow progressive muscle wasting… Expand
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Fretting wear in a modular neck hip prosthesis.
In vitro cyclic load fretting tests were conducted on a prototype of a cementless, modular neck, hip prosthesis. The study had three major objectives: to determine the amount of fretted material in… Expand
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Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria
Farnesylated prelamin A is a processing intermediate produced in the lamin A maturation pathway. Accumulation of a truncated farnesylated prelamin A form, called progerin, is a hallmark of the severe… Expand
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Clinical application of narrow Brånemark System implants for single-tooth restorations.
Replacing small, single incisors with implants can be esthetically challenging and difficult because of the limited amount of bone. In this investigation, 3.0-mm-diameter implants were used to… Expand
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Pre‐Lamin A processing is linked to heterochromatin organization
Pre‐lamin A undergoes subsequent steps of post‐translational modification at its C‐terminus, including farnesylation, methylation, and cleavage by ZMPSTE24 metalloprotease. Here, we show that… Expand
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Diverse lamin-dependent mechanisms interact to control chromatin dynamics
Interconnected functional strategies govern chromatin dynamics in eukaryotic cells. In this context, A and B type lamins, the nuclear intermediate filaments, act on diverse platforms involved in… Expand
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Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis
Collagen VI is a major extracellular matrix (ECM) protein with a critical role in maintaining skeletal muscle functional integrity. Mutations in COL6A1, COL6A2 and COL6A3 genes cause Ullrich… Expand
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Nuclear changes in a case of X‐linked Emery‐Dreifuss muscular dystrophy
Ultrastructural alterations in the nuclear architecture were found in skeletal muscle and skin cultured cells from a patient affected by X‐linked Emery‐Dreifuss muscular dystrophy (EMD) carrying a… Expand
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Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription.
Familial partial lipodystrophy is an autosomal dominant disease caused by mutations of the LMNA gene encoding alternatively spliced lamins A and C. Abnormal distribution of body fat and insulin… Expand
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