Alport syndrome and Pierson syndrome: diseases of the glomerular basement membrane
SD Funk, MH Lin, JH Miner - Matrix Biology, 2018 - Elsevier
The glomerular basement membrane (GBM) is an important component of the kidney's
glomerular filtration barrier. Like all basement membranes, the GBM contains type IV …
glomerular filtration barrier. Like all basement membranes, the GBM contains type IV …
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes
J Oliveira, A Gruber, M Cardoso, R Taipa… - Human …, 2018 - Wiley Online Library
Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early‐onset
muscle disease, caused by disease‐associated variants in the laminin‐α2 (LAMA2) gene …
muscle disease, caused by disease‐associated variants in the laminin‐α2 (LAMA2) gene …
A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene
DU Kemaladewi, PS Bassi, S Erwood, D Al-Basha… - Nature, 2019 - nature.com
Neuromuscular disorders are often caused by heterogeneous mutations in large, structurally
complex genes. Targeting compensatory modifier genes could be beneficial to improve …
complex genes. Targeting compensatory modifier genes could be beneficial to improve …
Laminin-deficient muscular dystrophy: Molecular pathogenesis and structural repair strategies
PD Yurchenco, KK McKee, JR Reinhard, MA Rüegg - Matrix Biology, 2018 - Elsevier
Laminins are large heterotrimers composed of the α, β and γ subunits with distinct tissue-
specific and developmentally regulated expression patterns. The laminin-α2 subunit …
specific and developmentally regulated expression patterns. The laminin-α2 subunit …
Structural biology of laminins
E Hohenester - Essays in biochemistry, 2019 - portlandpress.com
Laminins are large cell-adhesive glycoproteins that are required for the formation and
function of basement membranes in all animals. Structural studies by electron microscopy in …
function of basement membranes in all animals. Structural studies by electron microscopy in …
Laminin-inspired cell-instructive microenvironments for neural stem cells
D Barros, IF Amaral, AP Pego - Biomacromolecules, 2019 - ACS Publications
Laminin is a heterotrimeric glycoprotein with a key role in the formation and maintenance of
the basement membrane architecture and properties, as well as on the modulation of …
the basement membrane architecture and properties, as well as on the modulation of …
α-Integrins dictate distinct modes of type IV collagen recruitment to basement membranes
Basement membranes (BMs) are cell-associated extracellular matrices that support tissue
integrity, signaling, and barrier properties. Type IV collagen is critical for BM function, yet …
integrity, signaling, and barrier properties. Type IV collagen is critical for BM function, yet …
Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice
JR Reinhard, S Lin, KK McKee, S Meinen… - Science translational …, 2017 - science.org
L AMA2-related muscular dystrophy (LAMA2 MD or MDC1A) is the most frequent form of
early-onset, fatal congenital muscular dystrophies. It is caused by mutations in LAMA2, the …
early-onset, fatal congenital muscular dystrophies. It is caused by mutations in LAMA2, the …
Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy
Q Nguyen, KRQ Lim, T Yokota - The application of clinical genetics, 2019 - Taylor & Francis
Congenital muscular dystrophy (CMD) is a class of severe early-onset muscular dystrophies
affecting skeletal/cardiac muscles as well as the central nervous system (CNS). Laminin-α2 …
affecting skeletal/cardiac muscles as well as the central nervous system (CNS). Laminin-α2 …
LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort
Objective To characterize natural history of Laminin‐α2 related muscular dystrophies
(LAMA2‐RD) to help anticipating complications and identifying reliable outcome measures …
(LAMA2‐RD) to help anticipating complications and identifying reliable outcome measures …