The spinal cord (SC) is a biosynthetic center for neurosteroids, including pregnenolone (PREG),
progesterone (PROG), and 3α/5α-tetrahydroprogesterone (3α/5α-THP). In particular, …

Background: Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan
(α-DG) are a heterogeneous group of conditions associated with mutations in six …

… This thorough study by Kampinga's group also demonstrated that the most efficient anti-aggregation
activity is dependent on an array of 18 hydroxyl groups in the S/T-rich region of …

Exosomes, natural carriers of mRNAs, non-coding RNAs and proteins between donor and
recipient cells, actively contribute to cell-cell communication. We investigated the potential pro-…

Dystroglycan is a transmembrane glycoprotein whose interactions with the extracellular
matrix (ECM) are necessary for normal muscle and brain development, and disruptions of its …

Extent of muscle fibrosis contributes to disease severity in muscular dystrophies. To
investigate whether extracellular matrix (ECM) components contribute to the severe fibrosis …

… 5G > A, causing a splicing defect that entirely eliminates DNAJB6’s G/F domain (ΔG/F), the
… interface of this domain with the protein’s J domain that confers the interaction with HSP70. …

… S. Saredi… Correction added on 11 September 2017, after first online publication: The
author Simona Saredi has been correctly updated on this version. …

… diaphragm was determined on Masson’s trichrome-stained sections at ×… 40 cycles of PCR
reaction (15 s at 95 C and 1 min at 60 C). … ’s instructions (user bulletin #2; Applied Biosystems). …

Background: Cognitive impairment has been reported in a significant proportion of patients
with congenital muscular dystrophies (CMD), generally associated with brain changes. …