Results 81 to 90 of about 365 (96)

SUMOylated Golgin45 associates with PML-NB to transcriptionally regulate lipid metabolism genes during heat shock stress. [PDF]

Commun Biol
Jing S, Gao J, Tiwari N, Du Y, Zhu L, Gim B, Qian Y, Yue X, Lee I.   +8 more
europepmc   +1 more source

Epigenome-wide DNA methylation profiling reveals risk genes for migraine and its subtypes. [PDF]

J Headache Pain
Liu M, Shang J, Lei M, Wang W, Qiao J, Wang X, An Q, Cai W, Wang H, Zhu D, Peng Y, Liu F.   +11 more
europepmc   +1 more source

Immune Cell-Specific Regulatory Gene Prioritization in Low Back Pain Using Single-Cell eQTL-Informed Mendelian Randomization and Colocalization. [PDF]

J Pain Res
Tao G, Du H, Zeng Z, Yang P.
europepmc   +1 more source

Dataset reporting the differential effect of <i>HNRNPA1</i> isoforms on alternative splicing. [PDF]

Data Brief
Deshaies JE, Triassi V, Tétreault M, Vande Velde C.   +3 more
europepmc   +1 more source

Identification of ABHD6 as a lysophosphatidylserine lipase in the mammalian liver and kidneys. [PDF]

J Biol Chem
Chakraborty A, Punnamraju P, Sajeevan T, Kaur A, Kolthur-Seetharam U, Kamat SS.   +5 more
europepmc   +1 more source

Making the connection: How membrane contact sites have changed our view of organelle biology. [PDF]

Cell
Voeltz GK, Sawyer EM, Hajnóczky G, Prinz WA.   +3 more
europepmc   +1 more source

Discovery of 12-Thiazole Abietanes as Selective Inhibitors of the Human Metabolic Serine Hydrolase hABHD16A [PDF]

ACS Medicinal Chemistry Letters, 2018
Screening of an in-house library of compounds identified 12-thiazole abietanes as a new class of reversible inhibitors of the human metabolic serine hydrolase.
Vania M Moreira, Juha Savinainen, Tiina J Ahonen   +2 more
exaly   +5 more sources

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A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face

Clinical Genetics, 2021
Abstract Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous genetic disease characterized by progressive weakness and spasticity predominantly affecting the lower limbs. Complex HSP is a subset of HSP presenting with additional neuronal and/or non‐neuronal phenotypes.
Noriko Miyake, Sebastián Silva, Mónica Troncoso, Nobuhiko Okamoto, Yoshiki Andachi, Mitsuhiro Kato, Chisato Iwabuchi, Mio Hirose, Atsushi Fujita, Yuri Uchiyama, Naomichi Matsumoto   +10 more
openaire   +2 more sources

Review for "A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face"

2021
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Author response for "A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face"

2021
null Noriko Miyake, null Sebastián Silva, null Mónica Troncoso, null Nobuhiko Okamoto, null Yoshiki Andachi, null Mitsuhiro Kato, null Chisato Iwabuchi, null Mio Hirose, null Atsushi Fujita, null Yuri Uchiyama, null Naomichi Matsumoto   +10 more
openaire   +1 more source