Results 191 to 200 of about 21,042 (237)

Enteric nervous system disease in neuronopathic lysosomal storage disorders

Ewa Ziółkowska, Robert O. Heuckeroth, Jonathan D. Cooper   +2 more
openalex   +1 more source

In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses

The FEBS Journal, EarlyView.
Gle1 knockout mice fail to segregate cell lineages at the blastocyst stage, resulting in very early embryonic lethality. Gle1 knock‐in (KI) mice harboring a pathogenic variant giving rise to lethal congenital contracture syndrome 1 show both known and novel innervation defects, supportive of multiorgan pathology in human fetuses.
Tomáš Zárybnický, Sonja Lindfors, Saana Metso, Julia Koivula, Zoltan Szabo, Rasmus Valtonen, Mikko Tulppo, Johanna Magga, Samu Saarimäki, Sonja Bläuer, Ilkka Miinalainen, Risto Kerkelä, Petteri. T. Piepponen, Vootele Voikar, Juho Väänänen, Riikka Kivelä, Bhagwan Yadav, Hanna Lindgren, Pirkko Mattila, Fu‐Ping Zhang, Petra Sipilä, Reetta Hinttala, Satu Kuure   +22 more
wiley   +1 more source

Gene therapy for lysosomal storage disorders

, 2011
Angela Gritti
openalex   +2 more sources

Newly identified properties of known pharmaceuticals and myxobacterial small molecules revealed by screening for autophagy modulators

The FEBS Journal, EarlyView.
Autophagy is a cellular degradation process involved in, for example, immune responses to pathogens and neurodegeneration. To identify modulators of autophagy, we developed a microscopy‐based screening assay and identified previously unknown autophagy‐modulating activities in known drugs and natural products from myxobacteria and fungi.
Janine Fichtner, Yan Yan Beer, H. G. Mauricio Ramm, Sabrina Mühlen, Frank Surup, Jennifer Herrmann, Toni Luise Meister, Stephanie Pfaender, Ursula Bilitewski, Mark Brönstrup, Rolf Müller, Manfred Wirth, Eeva‐Liisa Eskelinen, Ingo Schmitz   +13 more
wiley   +1 more source

Management of Gaucher Disease Type 1 in a Resource-Limited Setting: A Pediatric Case Study. [PDF]

Clin Case Rep
Shah BK, Koirala D, Mishra B, Sapkota R, Basnet M.   +4 more
europepmc   +1 more source

Structural insights into how vacuolar sorting receptor recognizes the C‐terminal sorting determinant of a vicilin‐like seed storage protein

The FEBS Journal, EarlyView.
Soluble cargo proteins are sorted to the vacuoles via a receptor‐mediated mechanism. Combining crystallographic and mutagenesis studies, we showed how the C‐terminal sorting determinant (ctVSD) of vicilin‐like seed storage protein VL22 is recognized by the protease‐associated domain of Arabidopsis vacuolar‐sorting receptor 1.
Shu Nga Lui, Hsi‐En Tsao, Anthony Hiu‐Fung Lo, Liwen Jiang, Kam‐Bo Wong   +4 more
wiley   +1 more source

GM2 Gangliosidosis AB Variant: A Hidden Truth. [PDF]

Cureus
Noites I, Coelho AS, Magalhães C, Ramos S, Laranjeira F, Lacerda L, Taipa R, Garrido C, Temudo T, Figueiroa S.   +9 more
europepmc   +1 more source

Easy method for newborn screening of six lysosomal storage disorders using online solid-phase extraction with mass spectrometry / Altı lizozomal depo hastağının yenidoğan taramasında, online katı faz eksraksiyon kullanılarak kütle spektrometresi ile ölçümünde kolay bir metod

, 2016
Muhittin Serdar, İncilay Lay, Julide Coşkun, Berna Aslan, Hüseyi̇n Aslan, Abdurrahman Coşkun, Mustafa Serteser, İbrahim Ünsal, Aysel Özpınar   +8 more
openalex   +1 more source

Artificial lipidation of proteins and peptides: from mechanism to clinical applications

The FEBS Journal, EarlyView.
Artificial lipidation transforms protein and peptide therapeutics by attaching fatty acid chains through reversible or permanent chemical strategies. This biomimetic approach delivers four key therapeutic advantages: extended circulation times (enabling weekly instead of daily dosing), alternative administration routes including oral delivery, precise ...
Jiaming Mu, Emily Vong, Sheiliza Carmali
wiley   +1 more source

Cell disorders in lysosomal storage diseases

, 2012
Élise Roy
openalex   +1 more source