Insights on human small heat shock proteins and their alterations in diseases
B Tedesco, R Cristofani, V Ferrari, M Cozzi… - Frontiers in molecular …, 2022 - frontiersin.org
The family of the human small Heat Shock Proteins (HSPBs) consists of ten members of
chaperones (HSPB1-HSPB10), characterized by a low molecular weight and capable of …
chaperones (HSPB1-HSPB10), characterized by a low molecular weight and capable of …
Comprehensive genetic analyses of inherited peripheral neuropathies in Japan: making early diagnosis possible
M Ando, Y Higuchi, J Yuan, A Yoshimura, T Taniguchi… - Biomedicines, 2022 - mdpi.com
Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including
large duplication/deletion and repeat expansion, making genetic diagnosis challenging …
large duplication/deletion and repeat expansion, making genetic diagnosis challenging …
DNAJB2 c. 184C> T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy
M Liu, Y Xu, D Hong, C Lu, Y Fan… - Clinical …, 2022 - search.proquest.com
Distal hereditary motor neuropathy (dHMN), also known as distal spinal muscular atrophy
(dSMA), comprises a group of inherited peripheral neuropathies with great clinical and …
(dSMA), comprises a group of inherited peripheral neuropathies with great clinical and …
A challenging interplay between basic research, technologies and medical education to provide therapies based on disease mechanisms
VI Bunik - Frontiers in Medicine, 2024 - frontiersin.org
Identification of disease-causing genes and understanding disease mechanisms are critical
challenges in the translational and precision, or personal, medicine. Principal problems in …
challenges in the translational and precision, or personal, medicine. Principal problems in …
Extension of the DNAJB2a isoform in a dominant neuromyopathy family
J Sarparanta, PH Jonson, J Reimann… - Human Molecular …, 2023 - academic.oup.com
Recessive mutations in the DNAJB2 gene, encoding the J-domain co-chaperones DNAJB2a
and DNAJB2b, have previously been reported as the genetic cause of progressive …
and DNAJB2b, have previously been reported as the genetic cause of progressive …
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease
T Karakaya, A Turkyilmaz, G Sager, R Inan, O Yarali… - neurogenetics, 2022 - Springer
Abstract Charcot-Marie-Tooth (CMT) disease represents a distinct subgroup of inherited
peripheral neuropathies with a significant prevalence throughout the world and manifests …
peripheral neuropathies with a significant prevalence throughout the world and manifests …
[HTML][HTML] High diagnostic yield with algorithmic molecular approach on hereditary neuropathies
GG Ceylan, E Habiloğlu, B Çavdarlı… - Revista da Associação …, 2023 - SciELO Brasil
SUMMARY OBJECTIVE: Charcot-Marie-Tooth disease covers a group of inherited
peripheral neuropathies. The aim of this study was to investigate the effect of targeted next …
peripheral neuropathies. The aim of this study was to investigate the effect of targeted next …
Administration of Phosphonate Inhibitors of Dehydrogenases of 2-Oxoglutarate and 2-Oxoadipate to Rats Elicits Target-Specific Metabolic and Physiological …
VI Bunik, AV Artiukhov, AV Kazantsev… - Frontiers in …, 2022 - frontiersin.org
In vitro and in cell cultures, succinyl phosphonate (SP) and adipoyl phosphonate (AP)
selectively target dehydrogenases of 2-oxoglutarate (OGDH, encoded by OGDH/OGDHL) …
selectively target dehydrogenases of 2-oxoglutarate (OGDH, encoded by OGDH/OGDHL) …