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 …

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 …

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 …

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 …

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 …

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 …

α-Integrins dictate distinct modes of type IV collagen recruitment to basement membranes

R Jayadev, Q Chi, DP Keeley, EL Hastie… - Journal of Cell …, 2019 - rupress.org
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 …

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 …

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 …

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

AA Zambon, D Ridout, M Main, R Mein… - Annals of Clinical …, 2020 - Wiley Online Library
Objective To characterize natural history of Laminin‐α2 related muscular dystrophies
(LAMA2‐RD) to help anticipating complications and identifying reliable outcome measures …